GLOSSARY

MEFV

Syndromes/panels

FAMILIAL MEDITERRANEAN FEVER (FMF)

MVK

Syndromes/panels

HYPER-IgD SYNDROME/MEVALONATE KINASE DEFICIENCY

NLRP3

Syndromes/panels

CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES (CAPS)

TNFRSF1A

Syndromes/panels

TNF RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME (TRAPS)

FusionNTRK3::ETV6

Syndromes/panels

SARCOMA

FusionNTRK1

Syndromes/panels

GLIOBLASTOMA

FusionGenes:NTRK1

Syndromes/panels

ENDOMETRIAL CANCER

A1AT

Syndromes/panels

ALPHA-1 ANTITRYPSIN DEFICIENCY (AAT)

AARS

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

NEUROPATHIES, HEREDITARY

AARS2

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ABCA1

Syndromes/panels

HYPOALPHALIPOPROTEINEMIA (PRIMARY HDL DEFICIENCY SYNDROME)

TANGIER DISEASE

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

ABCA3

Syndromes/panels

INTERSTITIAL LUNG DISEASE (ILD)

ABCA4

Syndromes/panels

RETINITIS PIGMENTOSA

ABCB7

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ABCC6

Syndromes/panels

Pseudoxanthoma elasticum

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ABCC8

Syndromes/panels

EVARTIA METABOLIC PANEL

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

ABCC9

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DILATED CARDIOMYOPATHY (DCM)

EARLY REPOLARIZATION SYNDROME

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MACROCEPHALY PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ABCD1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

ABCD4

Syndromes/panels

EVARTIA METABOLIC PANEL

ABCG5

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

ABCG8

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

ABETALIPOPROTEINEMIA (ABL)

ABHD12

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

ABL1

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ABL2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ACAD8

Syndromes/panels

EVARTIA METABOLIC PANEL

ACAD9

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ACADM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

NEWBORN TESTING

ACADS

Syndromes/panels

EVARTIA METABOLIC PANEL

ACADSB

Syndromes/panels

EVARTIA METABOLIC PANEL

ACADVL

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

NEWBORN TESTING

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ACE

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Renal tubular dysgenesis

Achondrogenesis type 2

Achondroplasia

ACOX1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

ACSF3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

ACSL4

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ACTA1

Syndromes/panels

MYOPATHIES, CONGENITAL core panel

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

MYOPATHIES, NEMALINE

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ACTA2

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Lower urinary tract obstruction (LUTO), congenital

Moyamoya disease

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

ACTB

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ACTC1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CONGENITAL HEART DEFECTS PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

ISOLATED CONGENITAL HEART DEFECTS PANEL

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

ACTG1

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DEAFNESS/HEARING LOSS

ACTG2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

ACTL6B

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

ACTN2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ACTN4

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ACVR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ACVR1B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ACVR2B

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

ACVRL1

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

ADA

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

ADAM22

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

ADAMTS10

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

MARFAN-LIKE DISORDERS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

Weill-Marchesani syndrome

ADAMTS17

Syndromes/panels

AORTIC DISORDERS PANEL

MARFAN-LIKE DISORDERS PANEL

Weill-Marchesani syndrome

ADAMTS2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS (dEDS)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ADAMTSL2

Syndromes/panels

AORTIC DISORDERS PANEL

Geleophysic dysplasia

MARFAN-LIKE DISORDERS PANEL

ADAMTSL4

Syndromes/panels

AORTIC DISORDERS PANEL

Ectopia lentis

MARFAN-LIKE DISORDERS PANEL

ADARB2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ADAT3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ADCY1

Syndromes/panels

DEAFNESS/HEARING LOSS

ADCY5

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

ADGRG1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ADGRV1

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

EPILEPSY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

USHER SYNDROME (USH)

ADH1B

Syndromes/panels

ALCOHOL INTOLERANCE

ADNP

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ADRA2B

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

Adventia Carrier Screening Alpha Thalassemia Focus Panel

Adventia Carrier Screening B-Haemoglobinopathies Focus Panel

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Adventia Carrier Screening Cystic Fibrosis Focus Panel

Adventia Carrier Screening Dystrophinopathies Focus Panel

Adventia Carrier Screening Fragile X syndrome Focus Panel

Adventia Carrier Screening Spinal Muscular Atrophy Focus Panel

AEBP1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, CLASSICAL-LIKE (clEDS)

AFF2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

AFF4

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

AFG3L2

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AGA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

Agammaglobulinemia

AGK

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

AGL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

EVARTIA METABOLIC PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VERAgene NIPT

AGO1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AGO2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AGPS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

AGT

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Renal tubular dysgenesis

AGTR1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Renal tubular dysgenesis

AGXT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HYPEROXALURIA

AHDC1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

AHI1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

AICDA

Syndromes/panels

HYPER-IGM SYNDROME (HIGM)

AIFM1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

AIP

Syndromes/panels

ENDOCRINE TUMORS

NERVOUS SYSTEM/BRAIN TUMORS

AIRE

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY (APECED)

RODINIA FEMALE PANEL

AJUBA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AK2

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

AKAP9

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

AKT1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PIK3CA & AKT1 PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

AKT2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

AKT3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

ALAD

Syndromes/panels

PORPHYRIA

ALAGILLE SYNDROME

ALAS2

Syndromes/panels

PORPHYRIA

SIDEROBLASTIC ANEMIA

ALB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ALCOHOL INTOLERANCE

ALDH18A1

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ALDH2

Syndromes/panels

ALCOHOL INTOLERANCE

ALDH3A2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

ALDH5A1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

ALDH6A1

Syndromes/panels

EVARTIA METABOLIC PANEL

ALDH7A1

Syndromes/panels

EPILEPSY

EPILEPSY, PYRIDOXINE-DEPENDENT

EPILEPSY, THERAPY RELEVANT

ALDOA

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

ALDOB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

ALG1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

ALG11

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ALG12

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

ALG13

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EVARTIA METABOLIC PANEL

ALG2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ALG3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ALG6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ALG8

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

ALG9

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ALK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

ALMS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ALSTRÖM SYNDROME

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BARDET-BIEDL SYNDROME (BBS) extended panel

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VERAgene NIPT

alongwithsegmentalorstructuralaneuploidiesover10Mb.

Syndromes/panels

Amfira PGT-A

Amfira PGT-SR

ALOX12B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ALPHA THALASSEMIA

ALPHA-1 ANTITRYPSIN DEFICIENCY (AAT)

ALPK3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ALPL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HYPOPHOSPHATASIA

OSTEOPOROSIS

ALPORT SYNDROME (ATS)

ALSTRÖM SYNDROME

ALX4

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

ALZHEIMER‘S DISEASE, EARLY-ONSET

ALZHEIMER‘S DISEASE, LATE-ONSET

AMACR

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

AMER1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

Amfira PGT-A

Amfira PGT-SR

AmfiraPGT-Apaneltestsforwhole

Syndromes/panels

Amfira PGT-A

AmfiraPST-SRincludesPGT-Aanalysis

Syndromes/panels

Amfira PGT-SR

AMPD2

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

AMT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

AMYLOIDOSIS

ANDROGEN INSENSITIVITY SYNDROME (AIS)

ANK1

Syndromes/panels

SPHEROCYTOSIS, HEREDITARY

ANK2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

ANK3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ANKLE2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

ANKRD1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ANKRD11

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

ANKRD26

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ANKS6

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

ANLN

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ANO10

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ANO5

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

ANOS1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (extended panel)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

ANTITHROMBIN DEFICIENCY (ATIII DEFICIENCY), HEREDITARY

AORTIC DISORDERS PANEL

AP1S2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

AP3B1

Syndromes/panels

CONGENITAL NEUTROPENIA

AP3B2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

APC

Syndromes/panels

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

Apert syndrome

APLNR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

APOA1

Syndromes/panels

APOLIPOPROTEIN A-I DEFICIENCY (ApoA-I)

HYPERLIPOPROTEINEMIA, MIXED (COMBINED HYPERLIPIDEMIA IIB)

HYPOALPHALIPOPROTEINEMIA (PRIMARY HDL DEFICIENCY SYNDROME)

APOA5

Syndromes/panels

CHYLOMICRONEMIA SYNDROME

HYPERTRIGLYCERIDEMIA, PRIMARY

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

APOB

Syndromes/panels

HYPERCHOLESTEROLEMIA, FAMILIAL core panel

HYPERCHOLESTEROLEMIA, FAMILIAL extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

APOC2

Syndromes/panels

CHYLOMICRONEMIA SYNDROME

HYPERLIPOPROTEINEMIA, TYPE IB

HYPERTRIGLYCERIDEMIA, PRIMARY

APOE

Syndromes/panels

ALZHEIMER‘S DISEASE, LATE-ONSET

HYPERLIPOPROTEINEMIA, MIXED (COMBINED HYPERLIPIDEMIA IIB)

HYPERLIPOPROTEINEMIA, TYPE III

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

APOL1

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

APOLIPOPROTEIN A-I DEFICIENCY (ApoA-I)

APP

Syndromes/panels

ALZHEIMER‘S DISEASE, EARLY-ONSET

APPL1

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

APTX

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AQP2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Nephrogenic diabetes insipidus (NDI)

AR

Syndromes/panels

ANDROGEN INSENSITIVITY SYNDROME (AIS)

AZOOSPERMIA (extended)

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

MUSCULAR ATROPHY, SPINOBULBAR (SBMA, KENNEDY DISEASE)

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

RODINIA MALE PANEL

ARAF

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

ARFRP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ARG1

Syndromes/panels

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

ARHGAP24

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ARHGAP31

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

ARHGAP35

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ARHGDIA

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ARHGEF10

Syndromes/panels

NEUROPATHIES, HEREDITARY

ARHGEF15

Syndromes/panels

EPILEPSY

ARHGEF6

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ARHGEF9

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

ARID1A

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ARID1B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ARID2

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ARID5B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ARL13B

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

ARL6

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

ARMC4

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

ARSA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

EVARTIA METABOLIC PANEL

ARSB

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

MUCOPOLYSACCHARIDOSIS

ARV1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

ARX

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

ASAH1

Syndromes/panels

HYDROPS FETALIS

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

ASH1L

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ASL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

ASNS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

ASPA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

MACROCEPHALY PANEL

VERAgene NIPT

ASPM

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

ASS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

ASXL1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ASXL2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ATAD1

Syndromes/panels

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

ATAXIAS

ATAXIAS, EPISODIC

ATAXIAS, FRIEDREICH (FRDA1)

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

ATCAY

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ATG5

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ATL1

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

ATL3

Syndromes/panels

NEUROPATHIES, HEREDITARY

ATM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

CHOREATIC MOVEMENT DISORDERS extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

ATN1

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

ATP1A1

Syndromes/panels

NEUROPATHIES, HEREDITARY

ATP1A2

Syndromes/panels

EPILEPSY

MIGRAINE, FAMILIAL HEMIPLEGIC

ATP1A3

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ATP6AP2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ATP6V0A2

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ATP6V1A

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ATP6V1B1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

ATP6V1E1

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ATP7A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

ATP7B

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

WILSON DISEASE

ATP8A2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ATR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ATRIAL FIBRILLATION

ATRX

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

ATXN1

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

ATXN10

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

ATXN2

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

ATXN3

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

ATXN7

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

COMPREHENSIVE CANCER PANEL

AUH

Syndromes/panels

EVARTIA METABOLIC PANEL

AURKA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AURKB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AURKC

Syndromes/panels

RODINIA MALE PANEL

AUTISM SPECTRUM DISORDERS PANEL

AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY (APECED)

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTS2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

AVPR2

Syndromes/panels

Nephrogenic diabetes insipidus (NDI)

AXIN

Syndromes/panels

COLON CANCER extended panel

AXIN1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AXIN2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AXL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

AZF

Syndromes/panels

AZOOSPERMIA (standard)

AZOOSPERMIA (extended)

AZOOSPERMIA (standard)

B2M

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

B3GALNT2

Syndromes/panels

MUSCULAR DYSTROPHIES

B3GALT6

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC (spEDS)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

B4GALT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

B4GALT7

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

B4GAT1

Syndromes/panels

MUSCULAR DYSTROPHIES

B9D1

Syndromes/panels

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

B9D2

Syndromes/panels

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

BABAM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BAG3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYOPATHIES, MYOFIBRILLAR

NEUROPATHIES, HEREDITARY

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

BAP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

KIDNEY CANCERS

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SKIN TUMORS

UNSPECIFIC TUMOR SYNDROMES

BARD1

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA PAN-CANCER PANEL

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBC3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BBIP1

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

VERAgene NIPT

BBS10

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS12

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

VERAgene NIPT

BBS2

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS4

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS5

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS7

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BBS9

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

BCAP31

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

BCKDHA

Syndromes/panels

EVARTIA METABOLIC PANEL

MAPLE SYRUP URINE DISEASE (MSUD)

NEWBORN TESTING

BCKDHB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MAPLE SYRUP URINE DISEASE (MSUD)

NEWBORN TESTING

VERAgene NIPT

BCL10

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BCL2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

BCL2L1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BCL2L11

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BCL2L2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BCL6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

BCOR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

BCORL1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

BCR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

BCS1L

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VERAgene NIPT

BDNF

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

BDP1

Syndromes/panels

DEAFNESS/HEARING LOSS

BETA THALASSEMIA

BGN

Syndromes/panels

AORTIC DISORDERS PANEL

Meester-Loeys syndrome

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

BICC1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

BICD2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

BICUSPID AORTIC VALVE (BAV)

BIN1

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

BIOTINIDASE DEFICIENCY

BIRC3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BLK

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

BLM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

COMPREHENSIVE CANCER PANEL

BLNK

Syndromes/panels

Agammaglobulinemia

BMP1

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

OSTEOPOROSIS

BMP15

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

BMP4

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

CRANIOSYNOSTOSIS
extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

BMP6

Syndromes/panels

HEMOCHROMATOSIS, HEREDITARY extended panel

BMP7

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

URINARY TRACT MALFORMATION extended panel

BMPR1A

Syndromes/panels

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

BMPR1B

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

BMPR2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

PULMONARY ARTERIAL HYPERTENSION (PAH)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

BRAF

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

AUTISM SPECTRUM DISORDERS PANEL

CARDIOFACIOCUTANEOUS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA BRAF PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEOPARD SYNDROME

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

BRAT1

Syndromes/panels

EPILEPSY

BRCA1

Syndromes/panels

BREAST AND OVARIAN CANCER BRCA1, BRCA2

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BRCA1 / BRCA2 PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

BRCA2

Syndromes/panels

BREAST AND OVARIAN CANCER BRCA1, BRCA2

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BRCA1 / BRCA2 PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

BRD4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

BREAST AND OVARIAN CANCER BRCA1, BRCA2

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

BREAST CANCER

BRIP1

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

BRUGADA SYNDROME

BRWD3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

BSCL2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

BSND

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

BTD

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

BIOTINIDASE DEFICIENCY

EVARTIA METABOLIC PANEL

NEWBORN TESTING

VERAgene NIPT

BTG1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BTG2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

BTK

Syndromes/panels

Agammaglobulinemia

COMPREHENSIVE CANCER PANEL

X-LINKED (BRUTON) AGAMMAGLOBULINEMIA (XLA)

BVES

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

C12orf4

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

C12orf57

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

C1R

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, PERIODONTAL (pEDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

C1S

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, PERIODONTAL (pEDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

C2CD3

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

C8orf37

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

RETINITIS PIGMENTOSA

CA4

Syndromes/panels

RETINITIS PIGMENTOSA

CA8

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CABP2

Syndromes/panels

DEAFNESS/HEARING LOSS

CACNA1A

Syndromes/panels

ATAXIAS

ATAXIAS, EPISODIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

MIGRAINE, FAMILIAL HEMIPLEGIC

CACNA1C

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

AUTISM SPECTRUM DISORDERS PANEL

BRUGADA SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EARLY REPOLARIZATION SYNDROME

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LONG QT SYNDROME (LQTS)

SHORT QT SYNDROME (SQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CACNA1D

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

SINUS NODE DYSFUNCTION

CACNA1E

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

CACNA1G

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CACNA1H

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

CACNA1S

Syndromes/panels

HYPOKALEMIC PERIODIC PARALYSIS

MALIGNANT HYPERTHERMIA

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

CACNA2D1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

EARLY REPOLARIZATION SYNDROME

SHORT QT SYNDROME (SQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CACNB2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

EARLY REPOLARIZATION SYNDROME

SHORT QT SYNDROME (SQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CACNB4

Syndromes/panels

ATAXIAS

ATAXIAS, EPISODIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

CACNG2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CAD

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EVARTIA METABOLIC PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CADASIL SYNDROME

CALM1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CALM2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CALM3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

CALR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CALR3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

CAMK2A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CAMK2B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CAMK2G

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CAPN1

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CAPN10

Syndromes/panels

RODINIA FEMALE PANEL

CAPN3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

CARD11

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

CARDIOFACIOCUTANEOUS SYNDROME

CARM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CASK

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CASP8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CASQ2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CASR

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

HYPOPARATHYROIDISM

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM (NSHPT)

PANCREATITIS

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

CATSPER1

Syndromes/panels

RODINIA MALE PANEL

CAV1

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

CAV3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CBFB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CBL

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NeoThetis PAN-CANCER PLUS PANEL

NOONAN SYNDROME

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (CBL VARIANT-ASSOCIATED SYNDROME)

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

CBLB

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CBLC

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CBS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CC2D1A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CC2D2A

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

CCBE1

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

HYDROPS FETALIS

CCDC103

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC114

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC115

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

CCDC151

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC22

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

CCDC28B

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

CCDC39

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC40

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC50

Syndromes/panels

DEAFNESS/HEARING LOSS

CCDC65

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCDC78

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

CCDC88C

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CCNB3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CCND1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CCND2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MACROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

CCND3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CCNE1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CCNO

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CCT5

Syndromes/panels

NEUROPATHIES, HEREDITARY

CD164

Syndromes/panels

DEAFNESS/HEARING LOSS

CD247

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

CD274

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CD276

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CD2AP

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

CD320

Syndromes/panels

EVARTIA METABOLIC PANEL

CD3D

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

CD3E

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

CD3G

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

CD40

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

HYPER-IGM SYNDROME (HIGM)

CD40LG

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

HYPER-IGM SYNDROME (HIGM)

CD70

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CD74

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CD79A

Syndromes/panels

Agammaglobulinemia

COMPREHENSIVE CANCER PANEL

CD79B

Syndromes/panels

Agammaglobulinemia

COMPREHENSIVE CANCER PANEL

CD8A

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

CDC14A

Syndromes/panels

DEAFNESS/HEARING LOSS

CDC25C

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CDC42

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDC45

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

CDC5L

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

CDC73

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

CDH1

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis GASTRIC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

CDH23

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

CDH4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDHR1

Syndromes/panels

RETINITIS PIGMENTOSA

CDK12

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CDK13

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CDK4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

SKIN TUMORS

CDK5

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CDK5RAP2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CDK6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MICROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

CDK7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDK8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDKL5

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

RETT SYNDROME PANEL

CDKN1A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDKN1B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

PANCREATIC TUMORS

UNSPECIFIC TUMOR SYNDROMES

CDKN1C

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

CDKN2A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

PANCREATIC TUMORS

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

SKIN TUMORS

CDKN2A(CDKN2A^p16(INK4A)

Syndromes/panels

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

CDKN2A^p14(ARF))

Syndromes/panels

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

CDKN2B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CDKN2C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CEACAM16

Syndromes/panels

DEAFNESS/HEARING LOSS

CEBPA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CEL

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

CELIAC DISEASE

CELSR1

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CELSR2

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CELSR3

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CENPA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CENPE

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CENPF

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CENPJ

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CEP104

Syndromes/panels

JOUBERT SYNDROME (JBTS)
extended panel

CEP120

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

CEP135

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CEP152

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CEP164

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

CEP250

Syndromes/panels

DEAFNESS/HEARING LOSS

CEP290

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

BARDET-BIEDL SYNDROME (BBS) extended panel

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

CEP41

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

CEP55

Syndromes/panels

HYDROPS FETALIS

CEP83

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

CEP85L

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CERKL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

CERS1

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

CFAP298

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

CFAP53

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CFH

Syndromes/panels

HYDROPS FETALIS

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

CFL2

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

CFTR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Adventia Carrier Screening Cystic Fibrosis Focus Panel

CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS (CBAVD)

CYSTIC FIBROSIS (CF)

NEWBORN TESTING

PANCREATITIS

RODINIA MALE PANEL

VERAgene NIPT

CHAMP1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

CHARGE SYNDROME

CHCHD10

Syndromes/panels

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

CHD1L

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

CHD2

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Moyamoya disease

CHD4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CHD7

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

CHARGE SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

ISOLATED CONGENITAL HEART DEFECTS PANEL

RODINIA FEMALE PANEL

RODINIA MALE PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CHD8

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

CHEK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CHEK2

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

CHKB

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

CHM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

CHMP1A

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

CHP1

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHRM3

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

CHRNA2

Syndromes/panels

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, FOCAL

CHRNA4

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

CHRNB2

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

CHRNE

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CHST14

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL (mcEDS)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CHYLOMICRONEMIA SYNDROME

CIB2

Syndromes/panels

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

CIC

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

CIITA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMBINED B AND T CELL IMMUNODEFICIENCIES

CIT

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

CITED2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CJA5

Syndromes/panels

SHORT QT SYNDROME (SQTS)

CLCN1

Syndromes/panels

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

CLCN2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

CLCN4

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

CLDN14

Syndromes/panels

DEAFNESS/HEARING LOSS

CLDN9

Syndromes/panels

DEAFNESS/HEARING LOSS

CLIC2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CLIC5

Syndromes/panels

DEAFNESS/HEARING LOSS

CLN3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

CLN5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

CLN6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

EVARTIA METABOLIC PANEL

CLN8

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

VERAgene NIPT

CLP1

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CLPB

Syndromes/panels

CONGENITAL NEUTROPENIA

EVARTIA METABOLIC PANEL

CLPP

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

Perrault syndrome

CLRN1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

VERAgene NIPT

CLTC

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CMTR2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CNGB3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CNKSR2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CNOT3

Syndromes/panels

AORTIC DISORDERS PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Moyamoya disease

CNPY3

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

CNTN1

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

CNTN2

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

CNTN4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CNTNAP2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

COA5

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COA6

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COA7

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COASY

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

COCH

Syndromes/panels

DEAFNESS/HEARING LOSS

COFFIN-LOWRY SYNDROME

COFFIN-SIRIS SYNDROME

COG1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COG2

Syndromes/panels

EVARTIA METABOLIC PANEL

COG4

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COG5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COG6

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COG7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COG8

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

COL10A1

Syndromes/panels

Metaphyseal chondrodysplasia, Schmid type

COL11A1

Syndromes/panels

DEAFNESS/HEARING LOSS

Marshall syndrome

STICKLER SYNDROME (STL)

COL11A2

Syndromes/panels

DEAFNESS/HEARING LOSS

Otospondylomegaepiphyseal dysplasia (OSMED)

STICKLER SYNDROME (STL)

COL12A1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, MYOPATHIC (mEDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

COL1A1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA (aEDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, CLASSICAL (cEDS)

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL DOMINANT
core panel

OSTEOPOROSIS

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL1A2

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA (aEDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, CARDIAC-VALVULAR (cvEDS)

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL DOMINANT
core panel

OSTEOPOROSIS

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL2A1

Syndromes/panels

Achondrogenesis type 2

Hypochondrogenesis

Kniest syndrome

Spondyloepiphyseal dysplasia

STICKLER SYNDROME (STL)

COL3A1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, VASCULAR (vEDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL4A1

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Hemorrhage, intracerebral

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL4A2

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Hemorrhage, intracerebral

COL4A3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ALPORT SYNDROME (ATS)

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

Thin-basement-membrane nephropathy (Hematuria, benign familial)

COL4A3BP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

COL4A4

Syndromes/panels

ALPORT SYNDROME (ATS)

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

Thin-basement-membrane nephropathy (Hematuria, benign familial)

COL4A5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ALPORT SYNDROME (ATS)

AORTIC DISORDERS PANEL

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

Thin-basement-membrane nephropathy (Hematuria, benign familial)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VERAgene NIPT

COL4A6

Syndromes/panels

DEAFNESS/HEARING LOSS

COL5A1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, CLASSICAL (cEDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL5A2

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, CLASSICAL (cEDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COL6A1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

COL6A2

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

COL6A3

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

COL7A1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COL9A1

Syndromes/panels

STICKLER SYNDROME (STL)

COL9A2

Syndromes/panels

STICKLER SYNDROME (STL)

COLGALT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

COLON CANCER core panel

COLON CANCER extended panel

COLON CARCINOMA

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

COMPREHENSIVE HEREDITARY CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

CONGENITAL ADRENAL HYPERPLASIA

CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS (CBAVD)

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

CONGENITAL HEART DEFECTS PANEL

CONGENITAL NEUTROPENIA

Contractural arachnodactyly, congenital

COPB2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

COQ2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

COQ6

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

COQ8A

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COQ8B

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

CORNELIA DE LANGE SYNDROME PANEL

CORO1A

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COSTELLO SYNDROME

COX15

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

COX6A1

Syndromes/panels

NEUROPATHIES, HEREDITARY

CP

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CPA1

Syndromes/panels

PANCREATITIS

CPA6

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

CPLANE1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

CPLX1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

CPOX

Syndromes/panels

PORPHYRIA

CPS1

Syndromes/panels

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

CPT1A

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MITOCHONDRIAL CARNITINE-ACYLCARNITINE CYCLE DISORDERS

NEWBORN TESTING

CPT2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

EVARTIA METABOLIC PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

MITOCHONDRIAL CARNITINE-ACYLCARNITINE CYCLE DISORDERS

NEWBORN TESTING

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CRADD

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

CRB1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

CRB2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

CRBN

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CREBBP

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

RUBINSTEIN-TAYBI SYNDROME

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CRELD1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

CREUTZFELDT–JAKOB DISEASE

CRIGLER-NAJJAR SYNDROME

CRKL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CRLF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

Crohn‘s disease

Crouzon syndrome

Crouzon syndrome with acanthosis nigricans

CRPPA

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

CRTAP

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

CRYAB

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYOPATHIES, MYOFIBRILLAR

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CRYM

Syndromes/panels

DEAFNESS/HEARING LOSS

CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES (CAPS)

CSDE1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CSF1R

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CSF2RA

Syndromes/panels

INTERSTITIAL LUNG DISEASE (ILD)

CSF2RB

Syndromes/panels

INTERSTITIAL LUNG DISEASE (ILD)

CSF3R

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL NEUTROPENIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CSNK1A1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CSNK2A1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CSPP1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

CSRP3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CSTB

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

CTCF

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CTDP1

Syndromes/panels

NEUROPATHIES, HEREDITARY

CTF1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

CTLA4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CTNNA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GASTROINTESTINAL TUMORS

CTNNA3

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

CTNNB1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

CTNS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

CTR9

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CTRC

Syndromes/panels

PANCREATITIS

CTSA

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

CTSK

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

CUBN

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

CUL3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CUL4A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CUL4B

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

CUTIS LAXA

CUX1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CWF19L1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CXCR4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL NEUTROPENIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

CYBB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CYFIP2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

CYLD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CYP11A1

Syndromes/panels

RODINIA FEMALE PANEL

CYP11B1

Syndromes/panels

CONGENITAL ADRENAL HYPERPLASIA

CYP11B2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CONGENITAL ADRENAL HYPERPLASIA

CYP17A1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ADRENAL HYPERPLASIA

RODINIA FEMALE PANEL

CYP19A1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE CANCER PANEL

RODINIA FEMALE PANEL

VERAgene NIPT

CYP21A2

Syndromes/panels

CONGENITAL ADRENAL HYPERPLASIA

NEWBORN TESTING

CYP27A1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CYP2C19

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CYP2D6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CYSLTR2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CYSTIC FIBROSIS (CF)

DAB1

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

DACH1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

URINARY TRACT MALFORMATION extended panel

DAG1

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

DARS2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

DAXX

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DAZL

Syndromes/panels

RODINIA MALE PANEL

DBH

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

DBT

Syndromes/panels

EVARTIA METABOLIC PANEL

MAPLE SYRUP URINE DISEASE (MSUD)

NEWBORN TESTING

DCDC2

Syndromes/panels

DEAFNESS/HEARING LOSS

NEPHRONOPHTHISIS (NPHP)
extended panel

DCK

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

DCLRE1C

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMBINED B AND T CELL IMMUNODEFICIENCIES

VERAgene NIPT

DCTN1

Syndromes/panels

NEUROPATHIES, HEREDITARY

DCUN1D1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DCX

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

DDB2

Syndromes/panels

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

DDC

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

DDOST

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

DDR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DDR2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

DDX25

Syndromes/panels

RODINIA MALE PANEL

DDX3X

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DDX41

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

DDX59

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

DEAF1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Deafness / hearing loss, syndromic

Deafness, nonsyndromic

DEAFNESS/HEARING LOSS

DEK

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

DELETIONS, DUPLICATIONS AND ANEUPLOIDIES

DENND1A

Syndromes/panels

RODINIA FEMALE PANEL

DENND5A

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

DEPDC5

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

DES

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, MYOFIBRILLAR

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DGAT2

Syndromes/panels

NEUROPATHIES, HEREDITARY

DGKE

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

DGUOK

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

DHCR24

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HYDROPS FETALIS

DHCR7

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

SMITH-LEMLI-OPITZ SYNDROME

DHDDS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

RETINITIS PIGMENTOSA

VERAgene NIPT

DHTKD1

Syndromes/panels

NEUROPATHIES, HEREDITARY

DHX15

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

DIABLO

Syndromes/panels

DEAFNESS/HEARING LOSS

DIAPH1

Syndromes/panels

DEAFNESS/HEARING LOSS

DIAPH2

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

DIAPH3

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

DICER1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA PAN-CANCER PANEL

UNSPECIFIC TUMOR SYNDROMES

DIGEORGE SYNDROME (22q11.2)

DIHYROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD DEFICIENCY)

DILATED CARDIOMYOPATHY (DCM)

DIS3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DIS3L2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

DISORDERS OF SEX DEVELOPMENT (DSD)

DKC1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DLAT

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

DLD

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

DLG3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DLG4

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DMD

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Adventia Carrier Screening Dystrophinopathies Focus Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

DUCHENNE/BECKER MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DMPK

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

HYDROPS FETALIS

MYOTONIC DYSTROPHY TYPE 1 (CURSCHMANN-STEINERT SYNDROME)

DMRT1

Syndromes/panels

AZOOSPERMIA (extended)

DMXL2

Syndromes/panels

DEAFNESS/HEARING LOSS

DNAAF1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAAF2

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAAF3

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAAF4

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAAF5

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAH1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAH11

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

DNAH5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

VERAgene NIPT

DNAH6

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

DNAH8

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAI1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

VERAgene NIPT

DNAI2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAJB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DNAJB11

Syndromes/panels

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

DNAJB13

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNAJB2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

DNAJB6

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, MYOFIBRILLAR

DNAJC12

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

DNAJC19

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DNAJC21

Syndromes/panels

CONGENITAL NEUTROPENIA

DNAJC5

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

DNAL1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DNM1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

DNM2

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

MUSCULAR DYSTROPHIES, CONGENITAL

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

NEUROPATHIES, HEREDITARY

DNMT1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE CANCER PANEL

NEUROPATHIES, HEREDITARY

DNMT3A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MACROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

OVERGROWTH SYNDROMES PANEL

DNMT3B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DOCK6

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

DOCK7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

DOCK8

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

DOLK

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DONSON

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

DOT1L

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DOWN SYNDROME (TRISOMY 21)

DPAGT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

DPF2

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DPM1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

DPM2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

DPM3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

DPYD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DIHYROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD DEFICIENCY)

DRAVET SYNDROME

DRC1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

DROSHA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DSC2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DSE

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL (mcEDS)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DSG2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DSP

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

DSTYK

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

DTNA

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

DUCHENNE/BECKER MUSCULAR DYSTROPHY

DUOX2

Syndromes/panels

NEWBORN TESTING

DUSP22

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

DUSP4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DUSP6

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

DVL1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

ROBINOW SYNDROME

DVL3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

ROBINOW SYNDROME

DYNC1H1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

DYNC2H1

Syndromes/panels

SHORT RIB THORACIC DYSPLASIA
core panel

SHORT RIB THORACIC DYSPLASIA
extended panel

DYNC2LI1

Syndromes/panels

SHORT RIB THORACIC DYSPLASIA
extended panel

DYRK1A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

DYSF

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

DZIP1L

Syndromes/panels

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (ARPKD)

E2F3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EARLY REPOLARIZATION SYNDROME

EBP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HYDROPS FETALIS

Ectopia lentis

EDA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EDC3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EDN3

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

WAARDENBURG SYNDROME (WS)

EDNRB

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

WAARDENBURG SYNDROME (WS)

EDWARDS SYNDROME (TRISOMY 18)

EED

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

EEF1A2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EEF2

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EFEMP1

Syndromes/panels

AORTIC DISORDERS PANEL

MARFAN-LIKE DISORDERS PANEL

EFEMP2

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

EFHC1

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

EFNB1

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

EGFL7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EGFR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA EGFR PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

EGR2

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA (aEDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, CARDIAC-VALVULAR (cvEDS)

EHLERS-DANLOS SYNDROME, CLASSICAL (cEDS)

EHLERS-DANLOS SYNDROME, CLASSICAL-LIKE (clEDS)

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS (dEDS)

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC (kEDS)

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL (mcEDS)

EHLERS-DANLOS SYNDROME, MYOPATHIC (mEDS)

EHLERS-DANLOS SYNDROME, PERIODONTAL (pEDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC (spEDS)

EHLERS-DANLOS SYNDROME, VASCULAR (vEDS)

EHMT1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

EIF1AX

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

EIF2AK4

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

EIF2B1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EIF2B2

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

RODINIA FEMALE PANEL

EIF2B3

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

RODINIA FEMALE PANEL

EIF2B4

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EIF2B5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VERAgene NIPT

EIF2S3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EIF3F

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EIF4A2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EIF4E

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ELAC2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

ELANE

Syndromes/panels

CONGENITAL NEUTROPENIA

Neutropenia, cyclic / Neutropenia, severe congenital 1

ELF3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ELMOD3

Syndromes/panels

DEAFNESS/HEARING LOSS

ELN

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

CUTIS LAXA

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

ELOVL4

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ELOVL5

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ELP1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

NEUROPATHIES, HEREDITARY

VERAgene NIPT

ELP2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EMD

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

SINUS NODE DYSFUNCTION

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

EMILIN1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

EML4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EMP2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

EMSY

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

ENDOMETRIAL CANCER

ENG

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

ENO3

Syndromes/panels

EVARTIA METABOLIC PANEL

EOGT

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

EP300

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

RUBINSTEIN-TAYBI SYNDROME

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

EPAS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPB41L1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPB42

Syndromes/panels

SPHEROCYTOSIS, HEREDITARY

EPCAM

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SKIN TUMORS

EPCAM*

Syndromes/panels

COLON CANCER core panel

GASTROINTESTINAL TUMORS

PANCREATIC TUMORS

PROSTATE CANCER

EPHA3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPHA5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPHA7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPHB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPHB4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, FOCAL

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

EPILEPSY, PYRIDOXINE-DEPENDENT

EPILEPSY, THERAPY RELEVANT

EPM2A

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

EPS8

Syndromes/panels

DEAFNESS/HEARING LOSS

EPS8L2

Syndromes/panels

DEAFNESS/HEARING LOSS

ERAL1

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

Perrault syndrome

ERBB2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

ERBB3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

ERBB4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

ERCC1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

ERCC2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

ERCC3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

ERCC4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

ERCC5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

ERF

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
extended panel

ERG

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ERRFI1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ESCO2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CRANIOSYNOSTOSIS
extended panel

ESPN

Syndromes/panels

DEAFNESS/HEARING LOSS

ESR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PREMATURE OVARIAN FAILURE (POF) (extended)

ESRP1

Syndromes/panels

DEAFNESS/HEARING LOSS

ESRRB

Syndromes/panels

DEAFNESS/HEARING LOSS

ETAA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ETFA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

VERAgene NIPT

ETFB

Syndromes/panels

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

ETFDH

Syndromes/panels

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

ETHE1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ETNK1

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ETS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ETV1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ETV4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

ETV5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

ETV6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

EVARTIA METABOLIC PANEL

EVC

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SHORT RIB THORACIC DYSPLASIA
extended panel

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

EVC2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SHORT RIB THORACIC DYSPLASIA
extended panel

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

EWSR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

EWSR1::ATF1

Syndromes/panels

SARCOMA

EWSR1::CREB1

Syndromes/panels

SARCOMA

EWSR1::DDIT3

Syndromes/panels

SARCOMA

EWSR1::ERG

Syndromes/panels

SARCOMA

EWSR1::ETV1

Syndromes/panels

SARCOMA

EWSR1::FEV

Syndromes/panels

SARCOMA

EWSR1::FLI1

Syndromes/panels

SARCOMA

EWSR1::NR4A3

Syndromes/panels

SARCOMA

EWSR1::PATZ1

Syndromes/panels

SARCOMA

EWSR1::PBX1

Syndromes/panels

SARCOMA

EWSR1::SMARCA5

Syndromes/panels

SARCOMA

EWSR1::SP3

Syndromes/panels

SARCOMA

EWSR1::ZNF384

Syndromes/panels

SARCOMA

EWSR1::ZNF444

Syndromes/panels

SARCOMA

EXOSC3

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

EXOSC8

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

EXOSC9

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EYA1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

URINARY TRACT MALFORMATION extended panel

EYA4

Syndromes/panels

DEAFNESS/HEARING LOSS

EYS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

VERAgene NIPT

EZH1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EZH2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MACROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

OVERGROWTH SYNDROMES PANEL

WEAVER SYNDROME

EZR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

F11

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

F13A1

Syndromes/panels

FACTOR XIII DEFICIENCY

F2

Syndromes/panels

THROMBOPHILIA

F5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

THROMBOPHILIA

F7

Syndromes/panels

FACTOR VII DEFICIENCY

F8

Syndromes/panels

HEMOPHILIA A

F9

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HEMOPHILIA B

FACTOR VII DEFICIENCY

FACTOR XIII DEFICIENCY

FAH

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NEWBORN TESTING

TYROSINEMIA, TYPE I

FAM161A

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

FAM175A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FAM189A2

Syndromes/panels

DEAFNESS/HEARING LOSS

FAM46C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FAM58A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FAMILIAL MEDITERRANEAN FEVER (FMF)

FANCA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCB

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

VERAgene NIPT

FANCD2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCE

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCF

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCG

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

VERAgene NIPT

FANCI

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCM

Syndromes/panels

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

FANCONI ANEMIA

FAS

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FAT1

Syndromes/panels

ATAXIAS

COMPREHENSIVE CANCER PANEL

FAT2

Syndromes/panels

ATAXIAS

FAT4

Syndromes/panels

HYDROPS FETALIS

FATTY ACID OXIDATION DISORDERS

FBLN5

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

NEUROPATHIES, HEREDITARY

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FBN1

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

Ectopia lentis

Geleophysic dysplasia

ISOLATED CONGENITAL HEART DEFECTS PANEL

MARFAN SYNDROME (MFS)

MARFAN-LIKE DISORDERS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

Type 1 fibrillinopathies

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

Weill-Marchesani syndrome

FBN2

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

Contractural arachnodactyly, congenital

ISOLATED CONGENITAL HEART DEFECTS PANEL

MARFAN-LIKE DISORDERS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FBP1

Syndromes/panels

EVARTIA METABOLIC PANEL

FBXL4

Syndromes/panels

METABOLIC MYOPATHIES

FBXO31

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FBXO38

Syndromes/panels

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

FBXW7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

FECH

Syndromes/panels

PORPHYRIA

FERTILITY DISORDERS – CHROMOSOMAL CAUSES

FEZF1

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FGD1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FGD4

Syndromes/panels

NEUROPATHIES, HEREDITARY

FGF1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF10

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF12

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

FGF13

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FGF14

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE CANCER PANEL

FGF17

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FGF19

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FGF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FGF20

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

FGF23

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FGF4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGF8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FGF9

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FGFR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

Pfeiffer syndrome

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FGFR2

Syndromes/panels

Apert syndrome

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

Crouzon syndrome

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

Pfeiffer syndrome

FGFR3

Syndromes/panels

Achondroplasia

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

Crouzon syndrome with acanthosis nigricans

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

HYDROPS FETALIS

HYPOCHONDROPLASIA

Muenke syndrome

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

FGFR4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FH

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HYDROPS FETALIS

KIDNEY CANCERS

FHL1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, MYOFIBRILLAR

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FHL2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

FHOD3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

FIG4

Syndromes/panels

NEUROPATHIES, HEREDITARY

FIGLA

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

Findoutpossiblecausesofunexplainedmiscarriagesusingstructuralchromosomalanalyses

Syndromes/panels

MISCARRIAGE DIAGNOSTICS

FISH EYE DISEASE (FED)

FKBP10

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

FKBP14

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC (kEDS)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FKRP

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

FKTN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FLCN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KIDNEY CANCERS

FLI1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FLNA

Syndromes/panels

AORTIC DISORDERS PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

INTERSTITIAL LUNG DISEASE (ILD)

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

FLNC

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYOPATHIES, MYOFIBRILLAR

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FLRT3

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FLT1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FLT3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

FLT4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

ISOLATED CONGENITAL HEART DEFECTS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

FLVCR1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

FMN2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FMR1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Adventia Carrier Screening Fragile X syndrome Focus Panel

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FRAGILE X SYNDROME

FRAGILE X TREMOR/ATAXIA SYNDROME

Fragile X-associated primary ovarian insufficiency (FXPOI)

PREMATURE OVARIAN FAILURE (POF) (standard)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

ForeSENTIA BRAF PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA EGFR PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA IDH1 & IDH2 PANEL

ForeSENTIA KRAS & NRAS PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PIK3CA & AKT1 PANEL

ForeSENTIA PROSTATE PANEL

FOXA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

FOXC1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

FOXC2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

HYDROPS FETALIS

FOXE3

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

FOXF1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

INTERSTITIAL LUNG DISEASE (ILD)

FOXG1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

RETT SYNDROME PANEL

FOXH1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

FOXI1

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

FOXL2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

FOXN1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

FOXO1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FOXP1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

MACROCEPHALY PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

FOXP2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

FOXP3

Syndromes/panels

HYDROPS FETALIS

FRAGILE X SYNDROME

FRAGILE X TREMOR/ATAXIA SYNDROME

Fragile X-associated primary ovarian insufficiency (FXPOI)

FRAS1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (extended panel)

URINARY TRACT MALFORMATION extended panel

FREM1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

CRANIOSYNOSTOSIS
extended panel

Kidney agenesis/dysgenesis (extended panel)

URINARY TRACT MALFORMATION extended panel

FREM2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (extended panel)

URINARY TRACT MALFORMATION extended panel

FRMPD4

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FRRS1L

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

FRS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

FRUCTOSE INTOLERANCE, including FBP1 deficiency

FSCN2

Syndromes/panels

RETINITIS PIGMENTOSA

FSH receptor deficiency

FSHB

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FSHR

Syndromes/panels

FSH receptor deficiency

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

FTL

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

FTSJ1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

FUBP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

FUCA1

Syndromes/panels

EVARTIA METABOLIC PANEL

FUS::ATF1

Syndromes/panels

SARCOMA

FUS::CREB3L1

Syndromes/panels

SARCOMA

FUS::CREB3L2

Syndromes/panels

SARCOMA

FUS::DDIT3

Syndromes/panels

SARCOMA

FUS::FEV

Syndromes/panels

SARCOMA

FUT8

Syndromes/panels

EVARTIA METABOLIC PANEL

FXN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATAXIAS, FRIEDREICH (FRDA1)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

FYN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

G6PC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

G6PC3

Syndromes/panels

CONGENITAL NEUTROPENIA

G6PD

Syndromes/panels

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (FAVISM)

GAA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

EVARTIA METABOLIC PANEL

GLUCOSIDASE, ALPHA, ACID (GAA, POMPE DISEASE)

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GAB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DEAFNESS/HEARING LOSS

GAB2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GABBR2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRA1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

GABRA2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRA5

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRA6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GABRB1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRB2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRB3

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GABRD

Syndromes/panels

DRAVET SYNDROME

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

GABRG2

Syndromes/panels

DRAVET SYNDROME

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

GAL

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

GALACTOSEMIA

GALACTOSIDASE, ALPHA (GLA, FABRY DISEASE)

GALC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

Krabbe disease

GALK1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

GALNS

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

MUCOPOLYSACCHARIDOSIS

GALNT12

Syndromes/panels

COLON CANCER extended panel

GALT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GALACTOSEMIA

NEWBORN TESTING

RODINIA FEMALE PANEL

GAMT

Syndromes/panels

EVARTIA METABOLIC PANEL

GAN

Syndromes/panels

NEUROPATHIES, HEREDITARY

GANAB

Syndromes/panels

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GARS

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

GAS8

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

GASTROINTESTINAL STROMAL TUMOR

GASTROINTESTINAL TUMORS

GATA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL NEUTROPENIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

GATA2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL NEUTROPENIA

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

GATA3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

Lower urinary tract obstruction (LUTO), congenital

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

GATA4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GATA5

Syndromes/panels

AORTIC DISORDERS PANEL

BICUSPID AORTIC VALVE (BAV)

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GATA6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GATAD1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GATAD2B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GATM

Syndromes/panels

EVARTIA METABOLIC PANEL

GBA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

GLUCOSIDASE, BETA, ACID (GBA, GAUCHER DISEASE)

HYDROPS FETALIS

VERAgene NIPT

GBA2

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

GBE1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GCDH

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

GLUTARIC ACIDEMIA TYPE I (GA1)

NEWBORN TESTING

GCH1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

GCK

Syndromes/panels

EVARTIA METABOLIC PANEL

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

GCLC

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

GCM2

Syndromes/panels

HYPOPARATHYROIDISM

GCSH

Syndromes/panels

EVARTIA METABOLIC PANEL

GDAP1

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

GDAP2

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

GDF1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GDF2

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE)

GDF9

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

GDI1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GDNF

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Geleophysic dysplasia

GEN1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

GFAP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

GFI1

Syndromes/panels

CONGENITAL NEUTROPENIA

GFM1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

GID4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GIPC3

Syndromes/panels

DEAFNESS/HEARING LOSS

GITELMAN SYNDROME

GJA1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

GJA5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

GJB1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHARCOT-MARIE-TOOTH DISEASE

NEUROPATHIES, HEREDITARY

GJB2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Deafness, nonsyndromic

DEAFNESS/HEARING LOSS

GJB3

Syndromes/panels

DEAFNESS/HEARING LOSS

GJB6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Deafness, nonsyndromic

DEAFNESS/HEARING LOSS

GJC1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

GJC2

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

GK

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GLA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

EVARTIA METABOLIC PANEL

GALACTOSIDASE, ALPHA (GLA, FABRY DISEASE)

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GLB1

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

MUCOPOLYSACCHARIDOSIS

GLDC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

GLE1

Syndromes/panels

HYDROPS FETALIS

GLI1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GLI3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CRANIOSYNOSTOSIS
extended panel

MACROCEPHALY PANEL

GLIOBLASTOMA

GLIS2

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

GLRA1

Syndromes/panels

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

GLRB

Syndromes/panels

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

GLS

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (FAVISM)

GLUCOSIDASE, ALPHA, ACID (GAA, POMPE DISEASE)

GLUCOSIDASE, BETA, ACID (GBA, GAUCHER DISEASE)

GLUD1

Syndromes/panels

EVARTIA METABOLIC PANEL

GLUL

Syndromes/panels

EPILEPSY

GLUTARIC ACIDEMIA TYPE I (GA1)

GM2A

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

EVARTIA METABOLIC PANEL

GMPPA

Syndromes/panels

EVARTIA METABOLIC PANEL

GMPPB

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

GNA11

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYPOPARATHYROIDISM

NeoThetis MELANOMA CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

GNA13

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GNAI1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GNAI2

Syndromes/panels

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

GNAO1

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GNAQ

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

GNAS

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PSEUDOHYPOPARATHYROIDISM

RODINIA FEMALE PANEL

GNB1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GNB2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

GNB4

Syndromes/panels

NEUROPATHIES, HEREDITARY

GNB5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

GNE

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MYOPATHIES, CONGENITAL extended panel

VERAgene NIPT

GNPTAB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

GNPTG

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

GNRH1

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

GNRHR

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

GNS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

GORAB

Syndromes/panels

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GOSR2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

GPAA1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

GPC3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

GPD1L

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

GPHN

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GPI ANCHOR DEFICIENCY PANEL

GPIHBP1

Syndromes/panels

CHYLOMICRONEMIA SYNDROME

HYPERTRIGLYCERIDEMIA, PRIMARY

GPR124

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GPS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GPSM2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

GRAP

Syndromes/panels

DEAFNESS/HEARING LOSS

GREM1

Syndromes/panels

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

GASTROINTESTINAL TUMORS

Kidney agenesis/dysgenesis (extended panel)

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA PAN-CANCER PANEL

GREM1*

Syndromes/panels

COLON CANCER core panel

GRHL2

Syndromes/panels

DEAFNESS/HEARING LOSS

GRHPR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HYPEROXALURIA

GRIA3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

GRID2

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

GRIK2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GRIN1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GRIN2A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, FOCAL

GRIN2B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GRIN2D

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GRIP1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

GRM1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

GRM3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GRXCR1

Syndromes/panels

DEAFNESS/HEARING LOSS

GRXCR2

Syndromes/panels

DEAFNESS/HEARING LOSS

GSDME

Syndromes/panels

DEAFNESS/HEARING LOSS

GSK3B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

GTPBP3

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

GUCY1A1

Syndromes/panels

AORTIC DISORDERS PANEL

Moyamoya disease

GUF1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GUSB

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

MUCOPOLYSACCHARIDOSIS

GYG1

Syndromes/panels

EVARTIA METABOLIC PANEL

GYS1

Syndromes/panels

EVARTIA METABOLIC PANEL

GYS2

Syndromes/panels

EVARTIA METABOLIC PANEL

H3F3A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

H3F3B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

H3F3C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HADH

Syndromes/panels

EVARTIA METABOLIC PANEL

HADHA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

HYDROPS FETALIS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

NEWBORN TESTING

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VERAgene NIPT

HADHB

Syndromes/panels

EVARTIA METABOLIC PANEL

FATTY ACID OXIDATION DISORDERS

HYDROPS FETALIS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

NEWBORN TESTING

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

HAMP

Syndromes/panels

HEMOCHROMATOSIS, HEREDITARY extended panel

HAND1

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

HAND2

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

HARS

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

USHER SYNDROME (USH)

HARS2

Syndromes/panels

DEAFNESS/HEARING LOSS

Perrault syndrome

HAX1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CONGENITAL NEUTROPENIA

VERAgene NIPT

HBA

Syndromes/panels

Adventia Carrier Screening Alpha Thalassemia Focus Panel

HBA1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

ALPHA THALASSEMIA

HYDROPS FETALIS

HBA2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

ALPHA THALASSEMIA

HYDROPS FETALIS

HBB

Syndromes/panels

Adventia Carrier Screening B-Haemoglobinopathies Focus Panel

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

BETA THALASSEMIA

SICKLE CELL DISEASE

VERAgene NIPT

HCCS

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HCFC1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

HCN1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

SINUS NODE DYSFUNCTION

HCN2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

HCN4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

HDAC1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HDAC2

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

HDAC4

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

HDAC6

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HDAC8

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

HEMOCHROMATOSIS, HEREDITARY core panel

HEMOCHROMATOSIS, HEREDITARY extended panel

HEMOPHILIA A

HEMOPHILIA B

Hemorrhage, intracerebral

HEPACAM

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HEPATIC LIPASE DEFICIENCY, FAMILIAL (HL)

HERC1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

HESX1

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

HEXA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

HEXB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HFE

Syndromes/panels

HEMOCHROMATOSIS, HEREDITARY core panel

HEMOCHROMATOSIS, HEREDITARY extended panel

HGF

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DEAFNESS/HEARING LOSS

HGSNAT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MUCOPOLYSACCHARIDOSIS

VERAgene NIPT

HINT1

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

NEUROPATHIES, HEREDITARY

HIST1H1C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H1E

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

OVERGROWTH SYNDROMES PANEL

HIST1H2BD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3D

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3E

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3F

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3G

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3H

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3I

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST1H3J

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST2H3A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST2H3C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST2H3D

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIST3H3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HIV-1 HOST RESISTANCE

HIVEP2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HJV

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HEMOCHROMATOSIS, HEREDITARY extended panel

HK1

Syndromes/panels

NEUROPATHIES, HEREDITARY

HLA-A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HLA-B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HLA-C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HLA-DQA1

Syndromes/panels

CELIAC DISEASE

HLA-DQB1

Syndromes/panels

CELIAC DISEASE

HLCS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HMBS

Syndromes/panels

PORPHYRIA

HMGB3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HMGCL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

HMGCS2

Syndromes/panels

EVARTIA METABOLIC PANEL

HNF1A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

HNF1B

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

HYDROPS FETALIS

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

Lower urinary tract obstruction (LUTO), congenital

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

Renal cysts and diabetes syndrome

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

HNF4A

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

HNRNPDL

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

HNRNPH2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HNRNPK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HNRNPU

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

HOGA1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HYPEROXALURIA

VERAgene NIPT

HOLOPROSENCEPHALY

HOMER2

Syndromes/panels

DEAFNESS/HEARING LOSS

HOXB13

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

HOXD10

Syndromes/panels

NEUROPATHIES, HEREDITARY

HPD

Syndromes/panels

EVARTIA METABOLIC PANEL

HPRT1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HPS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HPS3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HPSE2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

URINARY TRACT MALFORMATION extended panel

HRAS

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

COSTELLO SYNDROME

EVARTIA METABOLIC PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MACROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

VENTRILIA RASOPATHIES PANEL

HS6ST1

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

HSD17B10

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

HSD17B4

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

EVARTIA METABOLIC PANEL

Perrault syndrome

HSD3B1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HSD3B2

Syndromes/panels

CONGENITAL ADRENAL HYPERPLASIA

HSP90AA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

HSPB1

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

HSPB3

Syndromes/panels

NEUROPATHIES, HEREDITARY

HSPB8

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

HSPG2

Syndromes/panels

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

HTRA1

Syndromes/panels

CADASIL SYNDROME

HTT

Syndromes/panels

HUNTINGTON DISEASE

HUNTINGTON DISEASE

HUWE1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

HYAL1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MUCOPOLYSACCHARIDOSIS

HYDROPS FETALIS

HYLS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

JOUBERT SYNDROME (JBTS)
extended panel

VERAgene NIPT

HYOU1

Syndromes/panels

CONGENITAL NEUTROPENIA

HYPER-IgD SYNDROME/MEVALONATE KINASE DEFICIENCY

HYPER-IGM SYNDROME (HIGM)

HYPERCHOLESTEROLEMIA, FAMILIAL core panel

HYPERCHOLESTEROLEMIA, FAMILIAL extended panel

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

HYPERHOMOCYSTEINEMIA

HYPERLIPOPROTEINEMIA, MIXED (COMBINED HYPERLIPIDEMIA IIB)

HYPERLIPOPROTEINEMIA, TYPE IB

HYPERLIPOPROTEINEMIA, TYPE III

HYPEROXALURIA

HYPERTRIGLYCERIDEMIA, PRIMARY

HYPERTROPHIC CARDIOMYOPATHY (HCM)

HYPOALPHALIPOPROTEINEMIA (PRIMARY HDL DEFICIENCY SYNDROME)

HYPOBETALIPOPROTEINEMIA, FAMILIAL (FHBL)

HYPOCALCIURIC HYPERCALCEMIA (FHH)

Hypochondrogenesis

HYPOCHONDROPLASIA

HYPOGONADOTROPIC HYPOGONADISM / KALLMANN SYNDROME

HYPOKALEMIC PERIODIC PARALYSIS

HYPOPARATHYROIDISM

HYPOPHOSPHATASIA

HYPOPHOSPHATEMIA

ICOSLG

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ID3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IDH1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA IDH1 & IDH2 PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GLIOBLASTOMA

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

IDH2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA IDH1 & IDH2 PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GLIOBLASTOMA

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

IDH3B

Syndromes/panels

RETINITIS PIGMENTOSA

IDS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

MUCOPOLYSACCHARIDOSIS

VERAgene NIPT

IDUA

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

MUCOPOLYSACCHARIDOSIS

IFITM5

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL DOMINANT
core panel

OSTEOPOROSIS

IFNGR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IFT122

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

IFT140

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

IFT172

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

RETINITIS PIGMENTOSA

SHORT RIB THORACIC DYSPLASIA
extended panel

IFT27

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

IFT43

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

IFT52

Syndromes/panels

SHORT RIB THORACIC DYSPLASIA
extended panel

IFT57

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

IFT74

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

IFT80

Syndromes/panels

SHORT RIB THORACIC DYSPLASIA
core panel

SHORT RIB THORACIC DYSPLASIA
extended panel

IGBP1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

IGF1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IGF1R

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IGF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IGHM

Syndromes/panels

Agammaglobulinemia

IGHMBP2

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

IGLL1

Syndromes/panels

Agammaglobulinemia

IKBKE

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IKZF1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

IL10

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IL11RA

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

IL17RD

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

IL1RAPL1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

IL2RG

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMBINED B AND T CELL IMMUNODEFICIENCIES

Severe combined immunodeficiency, X-linked (X-SCID)

VERAgene NIPT

IL3

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

IL7R

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

ILDR1

Syndromes/panels

DEAFNESS/HEARING LOSS

ILK

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

IMPA1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

IMPAD1

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

IMPDH1

Syndromes/panels

RETINITIS PIGMENTOSA

IMPG2

Syndromes/panels

RETINITIS PIGMENTOSA

INF2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

NEUROPATHIES, HEREDITARY

INHA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PREMATURE OVARIAN FAILURE (POF) (extended)

INHBA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

INIP

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

INPP4A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

INPP4B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

INPP5E

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

INPPL1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

INS

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

RODINIA FEMALE PANEL

INSR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EVARTIA METABOLIC PANEL

RODINIA FEMALE PANEL

INSRR

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

INTERSTITIAL LUNG DISEASE (ILD)

INTU

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

INVS

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

IQCB1

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

IQSEC2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

RETT SYNDROME AND RELATED DISORDERS PANEL

IRF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

IRF4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

IRS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RODINIA FEMALE PANEL

IRS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RODINIA FEMALE PANEL

IRX5

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

ISCU

Syndromes/panels

METABOLIC MYOPATHIES

ISOLATED CONGENITAL HEART DEFECTS PANEL

ISOVALERIC ACIDEMIA

ITGA3

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ITGA7

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

ITGA8

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

ITGB4

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

ITK

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

ITPA

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

ITPR1

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

IVD

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ISOVALERIC ACIDEMIA

NEWBORN TESTING

VERAgene NIPT

JACOBS SYNDROME (DOUBLE Y SYNDROME)

JAG1

Syndromes/panels

ALAGILLE SYNDROME

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

JAGN1

Syndromes/panels

CONGENITAL NEUTROPENIA

JAK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

JAK2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

JAK3

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

JPH2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

JUN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

JUP

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

KABUKI SYNDROME

KANK1

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

KANK2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

KANK4

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

KANSL1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KARS

Syndromes/panels

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

KARS1

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

KAT6A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KAT6B

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KATNB1

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KBTBD13

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

KBTBD4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KCNA1

Syndromes/panels

ATAXIAS

ATAXIAS, EPISODIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

EPILEPSY

EPILEPSY, FOCAL

KCNA2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

KCNA5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

KCNAB2

Syndromes/panels

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNB1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

KCNC1

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

KCNC3

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

KCND3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

BRUGADA SYNDROME

EARLY REPOLARIZATION SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNE1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNE2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNE3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNE5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

KCNH2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

BRUGADA SYNDROME

LONG QT SYNDROME (LQTS)

SHORT QT SYNDROME (SQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNH5

Syndromes/panels

EPILEPSY

KCNJ10

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

KCNJ11

Syndromes/panels

EVARTIA METABOLIC PANEL

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

KCNJ2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

HYPOKALEMIC PERIODIC PARALYSIS

LONG QT SYNDROME (LQTS)

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

SHORT QT SYNDROME (SQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNJ5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNJ8

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

EARLY REPOLARIZATION SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNK3

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

KCNMA1

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

KCNQ1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

LONG QT SYNDROME (LQTS)

SHORT QT SYNDROME (SQTS)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

KCNQ2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, THERAPY RELEVANT

RETT SYNDROME AND RELATED DISORDERS PANEL

KCNQ3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

KCNQ4

Syndromes/panels

DEAFNESS/HEARING LOSS

KCNQ5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KCNT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, FOCAL

KCNT2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

KCTD7

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

KDM5A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KDM5B

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

KDM5C

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KDM6A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

KABUKI SYNDROME

NeoThetis PAN-CANCER PLUS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

KDR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

KEAP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

KEL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KIAA0556

Syndromes/panels

JOUBERT SYNDROME (JBTS)
extended panel

KIAA0586

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

KIAA0753

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

KIDNEY CANCERS

KIF11

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

KIF14

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MECKEL-GRUBER SYNDROME (MKS)
extended panel

MICROCEPHALY PANEL

KIF1A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NEUROPATHIES, HEREDITARY

RETT SYNDROME AND RELATED DISORDERS PANEL

KIF1B

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

KIF1C

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

KIF26B

Syndromes/panels

ATAXIAS

KIF4A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KIF5A

Syndromes/panels

NEUROPATHIES, HEREDITARY

KIF5B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KIF7

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

JOUBERT SYNDROME (JBTS)
extended panel

MACROCEPHALY PANEL

KIRREL3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KISS1

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

KISS1R

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

KIT

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

KITLG

Syndromes/panels

DEAFNESS/HEARING LOSS

KIZ

Syndromes/panels

RETINITIS PIGMENTOSA

KLF1

Syndromes/panels

HYDROPS FETALIS

KLF11

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

KLF4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KLF5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KLHL15

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KLHL40

Syndromes/panels

HYDROPS FETALIS

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

KLHL41

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

KLHL6

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KLHL7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETINITIS PIGMENTOSA

KLINEFELTER SYNDROME (47,XXY SYNDROME) 

KMT2A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

KMT2B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KMT2C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

KMT2D

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

KABUKI SYNDROME

NeoThetis PAN-CANCER PLUS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

KMT2E

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

KMT5A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KMT5B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Kniest syndrome

KNL1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

KNSTRN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

KPTN

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

Krabbe disease

KRAS

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIOFACIOCUTANEOUS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

CRANIOSYNOSTOSIS
extended panel

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA KRAS & NRAS PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MACROCEPHALY PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

KY

Syndromes/panels

MYOPATHIES, MYOFIBRILLAR

L1CAM

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Lactase deficiency, congenital

LACTOSE INTOLERANCE

LAMA2

Syndromes/panels

METABOLIC MYOPATHIES

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

LAMA4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LAMB1

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

LAMB2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

LAMC2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

LAMP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LAMP2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DILATED CARDIOMYOPATHY (DCM)

EVARTIA METABOLIC PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LAMTOR2

Syndromes/panels

CONGENITAL NEUTROPENIA

Langer mesomelic dysplasia

LARGE1

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

LARS2

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

Perrault syndrome

LAS1L

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

LATS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LATS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LBR

Syndromes/panels

HYDROPS FETALIS

LCA5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

LCAT

Syndromes/panels

FISH EYE DISEASE (FED)

HYPOALPHALIPOPROTEINEMIA (PRIMARY HDL DEFICIENCY SYNDROME)

LCK

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

LCT

Syndromes/panels

Lactase deficiency, congenital

LACTOSE INTOLERANCE

LDB3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

MYOPATHIES, MYOFIBRILLAR

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LDHA

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

LDLR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HYPERCHOLESTEROLEMIA, FAMILIAL extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

LDLRAP1

Syndromes/panels

HYPERCHOLESTEROLEMIA, FAMILIAL extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

LEFTY2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

LEGIUS SYNDROME

LEOPARD SYNDROME

LGI1

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

LHB

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

LHCGR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

VERAgene NIPT

LHFPL5

Syndromes/panels

DEAFNESS/HEARING LOSS

LHX3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

LIAS

Syndromes/panels

EVARTIA METABOLIC PANEL

LIFR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

LIG4

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

LIMS2

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

LINGO1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

LINS1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

LIPA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

VERAgene NIPT

LIPC

Syndromes/panels

HEPATIC LIPASE DEFICIENCY, FAMILIAL (HL)

HYPERLIPOPROTEINEMIA, MIXED (COMBINED HYPERLIPIDEMIA IIB)

LIPOPROTEIN LIPASE DEFICIENCY

LITAF

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

LMBRD1

Syndromes/panels

EVARTIA METABOLIC PANEL

LMF1

Syndromes/panels

CHYLOMICRONEMIA SYNDROME

HYPERTRIGLYCERIDEMIA, PRIMARY

LMNA

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

ATRIAL FIBRILLATION

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

NEUROPATHIES, HEREDITARY

RESTRICTIVE CARDIOMYOPATHY (RCM)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LMNB1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

LMNB2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

MICROCEPHALY PANEL

LMO1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LMOD3

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

LMX1A

Syndromes/panels

DEAFNESS/HEARING LOSS

LMX1B

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

LOEYS-DIETZ SYNDROME (LDS)

LONG QT SYNDROME (LQTS)

Lower urinary tract obstruction (LUTO), congenital

LOX

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LOXHD1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

DEAFNESS/HEARING LOSS

LPIN1

Syndromes/panels

METABOLIC MYOPATHIES

LPL

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CHYLOMICRONEMIA SYNDROME

HYPERTRIGLYCERIDEMIA, PRIMARY

LIPOPROTEIN LIPASE DEFICIENCY

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

VERAgene NIPT

LRIG2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

URINARY TRACT MALFORMATION extended panel

LRP1B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LRP5

Syndromes/panels

OSTEOPOROSIS

LRPPRC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

LRRC6

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

LRRC8A

Syndromes/panels

Agammaglobulinemia

LRSAM1

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

LRTOMT

Syndromes/panels

DEAFNESS/HEARING LOSS

LTBP2

Syndromes/panels

AORTIC DISORDERS PANEL

Ectopia lentis

MARFAN-LIKE DISORDERS PANEL

Weill-Marchesani syndrome

LTBP3

Syndromes/panels

AORTIC DISORDERS PANEL

Geleophysic dysplasia

MARFAN-LIKE DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

LTBP4

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

LTK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LUC7L2

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

LUJAN-FRYNS SYNDROME

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

LYN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LYST

Syndromes/panels

CONGENITAL NEUTROPENIA

LZTFL1

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

LZTR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

MACROCEPHALY PANEL

NERVOUS SYSTEM/BRAIN TUMORS

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

LÉRI-WEILL DYSCHONDROSTEOSIS

MACF1

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

MAD2L2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

MAGI2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAGT1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MAK

Syndromes/panels

RETINITIS PIGMENTOSA

MALIGNANT HYPERTHERMIA

MALT1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MAN1B1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

MAN2B1

Syndromes/panels

EVARTIA METABOLIC PANEL

MANBA

Syndromes/panels

EVARTIA METABOLIC PANEL

MAOA

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

MAP11

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

MAP2K1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIOFACIOCUTANEOUS SYNDROME

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

MAP2K2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIOFACIOCUTANEOUS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NeoThetis PAN-CANCER PLUS PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

MAP2K4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAP3K1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

MAP3K13

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAP3K14

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAP3K4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAPK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAPK3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAPKAP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MAPKBP1

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

MAPLE SYRUP URINE DISEASE (MSUD)

MARFAN SYNDROME (MFS)

MARFAN-LIKE DISORDERS PANEL

MARS

Syndromes/panels

NEUROPATHIES, HEREDITARY

MARS2

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

Marshall syndrome

MARVELD2

Syndromes/panels

DEAFNESS/HEARING LOSS

MAT2A

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

MAX

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

MBD5

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

MBOAT7

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MBTPS2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MCCC1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

MCCC2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

MCEE

Syndromes/panels

EVARTIA METABOLIC PANEL

MCIDAS

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

MCL1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MCM2

Syndromes/panels

DEAFNESS/HEARING LOSS

MCM3AP

Syndromes/panels

NEUROPATHIES, HEREDITARY

MCM9

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

MCOLN1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

EVARTIA METABOLIC PANEL

MCPH1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

MDC1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MDH2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

MDM2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MDM4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

MECOM

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MECP2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

RETT SYNDROME PANEL

MED12

Syndromes/panels

AORTIC DISORDERS PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

LUJAN-FRYNS SYNDROME

MACROCEPHALY PANEL

MARFAN-LIKE DISORDERS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

MED13

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MED13L

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

MED23

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MED25

Syndromes/panels

NEUROPATHIES, HEREDITARY

MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Meester-Loeys syndrome

MEF2B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MEF2C

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

RETT SYNDROME AND RELATED DISORDERS PANEL

MEFV

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MEGF10

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MEGF8

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

MELANOMA

MEN1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

PANCREATIC TUMORS

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PARATHYROID CANCER PANEL

MERTK

Syndromes/panels

RETINITIS PIGMENTOSA

MET

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

DEAFNESS/HEARING LOSS

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

KIDNEY CANCERS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

Metaphyseal chondrodysplasia, Schmid type

METHYLMALONIC ACIDURIA

METTL23

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

METTL5

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MEULENGRACHT (GILBERT) SYNDROME

MEVALONIC ACIDURIA

MFAP5

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MFN2

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

MFSD2A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

MFSD8

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

MGA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MGAT2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

MGME1

Syndromes/panels

METABOLIC MYOPATHIES

MGMTpromotormethylation

Syndromes/panels

GLIOBLASTOMA

MGP

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

MIB1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

microarrayCGH(aCGH)

Syndromes/panels

DELETIONS, DUPLICATIONS AND ANEUPLOIDIES

MICROCEPHALY PANEL

MICRODELETION 1p36 (1p36 microdeletion syndrome)

MICU1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MID1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MID2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MIGRAINE, FAMILIAL HEMIPLEGIC

MIR182

Syndromes/panels

DEAFNESS/HEARING LOSS

MIR183

Syndromes/panels

DEAFNESS/HEARING LOSS

MIR96

Syndromes/panels

DEAFNESS/HEARING LOSS

MISCARRIAGE DIAGNOSTICS

MITF

Syndromes/panels

COMPREHENSIVE CANCER PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SKIN TUMORS

WAARDENBURG SYNDROME (WS)

MITOCHONDRIAL CARNITINE-ACYLCARNITINE CYCLE DISORDERS

MKKS

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

HYDROPS FETALIS

MKS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

MLC1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

MLH1

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

PROSTATE CANCER

SKIN TUMORS

MLH3

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COLON CANCER extended panel

MLLT1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MLLT3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MLYCD

Syndromes/panels

EVARTIA METABOLIC PANEL

MMAA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

MMAB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MMACHC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

MMADHC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

MME

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

NEUROPATHIES, HEREDITARY

MMP21

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

MMUT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

METHYLMALONIC ACIDURIA

VERAgene NIPT

MOGS

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

monosomyX

Syndromes/panels

TURNER SYNDROME (MONOSOMY X)

MORC2

Syndromes/panels

NEUROPATHIES, HEREDITARY

MOWAT-WILSON SYNDROME

Moyamoya disease

MPDU1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

MPI

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

MPL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MPV17

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

METABOLIC MYOPATHIES

NEUROPATHIES, HEREDITARY

VERAgene NIPT

MPZ

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

NEUROPATHIES, HEREDITARY

MPZL2

Syndromes/panels

DEAFNESS/HEARING LOSS

MRAS

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

MRE11

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA PAN-CANCER PANEL

MRE11A

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

MRPL3

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MRPL44

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MRTFA

Syndromes/panels

CONGENITAL NEUTROPENIA

MSH2

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

PROSTATE CANCER

SKIN TUMORS

MSH3

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

MSH6

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

PROSTATE CANCER

SKIN TUMORS

MSI

Syndromes/panels

ENDOMETRIAL CANCER

MSI1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MSI2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MSL3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MSRB3

Syndromes/panels

DEAFNESS/HEARING LOSS

MST1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MST1R

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MSX2

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

MTAP

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MTHFR

Syndromes/panels

HYPERHOMOCYSTEINEMIA

MTM1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

VERAgene NIPT

MTMR14

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MTMR2

Syndromes/panels

NEUROPATHIES, HEREDITARY

MTO1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MTOR

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MACROCEPHALY PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

MTPAP

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

MTR

Syndromes/panels

EVARTIA METABOLIC PANEL

MTRR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

VERAgene NIPT

MTTP

Syndromes/panels

ABETALIPOPROTEINEMIA (ABL)

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

MUC1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

MUCOPOLYSACCHARIDOSIS

Muenke syndrome

MUSCULAR ATROPHY, SPINOBULBAR (SBMA, KENNEDY DISEASE)

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MUTYH

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA PAN-CANCER PANEL

MVK

Syndromes/panels

HYDROPS FETALIS

MEVALONIC ACIDURIA

MYB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MYBPC3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYC

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

MYCL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

MYCN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

MYD88

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MYF6

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYH11

Syndromes/panels

AORTIC DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

MYH14

Syndromes/panels

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

MYH2

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYH3

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

HYDROPS FETALIS

MYH6

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CONGENITAL HEART DEFECTS PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

ISOLATED CONGENITAL HEART DEFECTS PANEL

SINUS NODE DYSFUNCTION

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

MYH7

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

MYOPATHIES, CONGENITAL core panel

MYOPATHIES, CONGENITAL extended panel

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

MYH9

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

MYL1

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYL2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYL3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYL4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

MYLK

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYLK2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYO15A

Syndromes/panels

DEAFNESS/HEARING LOSS

MYO18B

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYO1E

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

MYO3A

Syndromes/panels

DEAFNESS/HEARING LOSS

MYO6

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DEAFNESS/HEARING LOSS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYO7A

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

MYOD1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

MYOM1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYOPATHIES, CONGENITAL core panel

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE core panel

MYOPATHIES, CORE extended panel

MYOPATHIES, MYOFIBRILLAR

MYOPATHIES, NEMALINE

MYOT

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, MYOFIBRILLAR

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

MYOTONIC DYSTROPHY TYPE 1 (CURSCHMANN-STEINERT SYNDROME)

MYOZ2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYPN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

MYRF

Syndromes/panels

HYDROPS FETALIS

MYT1L

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NAA10

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NAA15

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NAB2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NADK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NAGA

Syndromes/panels

EVARTIA METABOLIC PANEL

NAGLU

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

MUCOPOLYSACCHARIDOSIS

NAGS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

NALCN

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NARS2

Syndromes/panels

DEAFNESS/HEARING LOSS

NBN

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

VERAgene NIPT

NCAPD2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

NCAPD3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

NCAPH

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

NCOA3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NCOR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NDE1

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NDP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NDRG1

Syndromes/panels

NEUROPATHIES, HEREDITARY

NDST1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NDUFA1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

NDUFAF5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NDUFB11

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

NDUFS6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NDUFV2

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

NEB

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

NEBL

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

NECAP1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

NEFH

Syndromes/panels

NEUROPATHIES, HEREDITARY

NEFL

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

NEGR1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NEIL1

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

NEK1

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

SHORT RIB THORACIC DYSPLASIA
core panel

SHORT RIB THORACIC DYSPLASIA
extended panel

NEK2

Syndromes/panels

RETINITIS PIGMENTOSA

NEK8

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM (NSHPT)

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

Nephrogenic diabetes insipidus (NDI)

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

NERVOUS SYSTEM/BRAIN TUMORS

NEU1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

NEUROD1

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

NEUROD2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

NEUROFIBROMATOSIS TYPE 1 (NF1)

NEUROFIBROMATOSIS-NOONAN SYNDROME (NF/NS)

NEUROPATHIES, HEREDITARY

NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES

Neutropenia, cyclic / Neutropenia, severe congenital 1

NEWBORN TESTING

NEXMIF

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NEXN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

NF1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NERVOUS SYSTEM/BRAIN TUMORS

NEUROFIBROMATOSIS TYPE 1 (NF1)

NEUROFIBROMATOSIS-NOONAN SYNDROME (NF/NS)

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

SKIN TUMORS

UNSPECIFIC TUMOR SYNDROMES

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

NF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NERVOUS SYSTEM/BRAIN TUMORS

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

NFATC2::EWSR1

Syndromes/panels

SARCOMA

NFE2L2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NFIB

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

NFIX

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

NFKBIA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NGF

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

NGLY1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

NHEJ1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

NHLRC1

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

NHS

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Niemann-Pick disease

NIPBL

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

CORNELIA DE LANGE SYNDROME PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NKX2-1

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS extended panel

COMPREHENSIVE CANCER PANEL

INTERSTITIAL LUNG DISEASE (ILD)

NKX2-5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

CONGENITAL HEART DEFECTS PANEL

DILATED CARDIOMYOPATHY (DCM)

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NKX2-6

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NKX3-1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NKX6-2

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

NLGN3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NLGN4X

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NLRP3

Syndromes/panels

DEAFNESS/HEARING LOSS

NM_000130.4(F5):c.1601G>A(p.Arg534Gln).rnrnNM_000130.4(F5):c.3980A>G(p.His1327Arg).rnrnNM_000129.3(F13A1):c.103G>T(p.Val35Leu).rnrnNM_000212.2(ITGB3):c.176T>C(p.Leu59Pro).rnrnNM_000173.7(GP1BA):c.482C>T(p.Thr161Met).rnrnNM_000419.5(ITGA2B):c.2621T>G(p.Ile874Ser).rnrnNM_000212.2(ITGB3):c.506G>A(p.Arg169Gln).rnNM_002203.4(ITGA2):c.1600G>A(p.Glu534Lys).rnrnNM_000212.2(ITGB3):c.1544G>A(p.Arg515Gln).rnrnNM_000602.5(SERPINE1):c.-820G[(4_5)].rnrnNM_005957.5(MTHFR):c.665C>T(p.Ala222Val).rnrnNM_005957.4(MTHFR):c.1286A>C(p.Glu429Ala).rnrnNM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382.rnrnNM_000384.3(APOB):c.10580G>A(p.Arg3527Gln).rnrnNM_000041.2(APOE):c.526C>T(p.Arg176Cys).rnrnNM_000041.4(APOE):c.388T>C(p.Cys130Arg).rnrnNM_000254.2(MTR):c.2756A>G(p.Asp919Gly).rnNM_002454.3(MTRR):c.66A>G(p.Ile22Met).rnrnNM_000029.4(AGT):c.803T>C(p.Met268Thr).rnrnNM_031850.3(AGTR1):c.*86A>C.rnrnNM_000852.4(GSTP1):c.313A>G(p.Ile105Val).rnNM_000506.5(F2):c.*97G>A.

Syndromes/panels

RODINIA THROMBOPHILIA & NAIT PANEL

NME7

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NME8

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

NOBOX

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

NOD2

Syndromes/panels

Crohn‘s disease

NODAL

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

Non-Invasive Prenatal Testing

NON-SMALL CELL LUNG CARCINOMA

NONO

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

NOONAN SYNDROME

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (CBL VARIANT-ASSOCIATED SYNDROME)

NOTCH1

Syndromes/panels

AORTIC DISORDERS PANEL

BICUSPID AORTIC VALVE (BAV)

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NOTCH2

Syndromes/panels

ALAGILLE SYNDROME

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NOTCH3

Syndromes/panels

CADASIL SYNDROME

COMPREHENSIVE CANCER PANEL

NOTCH4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NPC1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

Niemann-Pick disease

NPC2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

Niemann-Pick disease

NPHP1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

BARDET-BIEDL SYNDROME (BBS) extended panel

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

NPHP3

Syndromes/panels

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

NPHP4

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

NEPHRONOPHTHISIS (NPHP)
core panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

NPHS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

NPHS2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

VERAgene NIPT

NPM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NPPA

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

NPRL2

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

NPRL3

Syndromes/panels

EPILEPSY

EPILEPSY, FOCAL

NR2E3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

NR2F2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

NR5A1

Syndromes/panels

AZOOSPERMIA (extended)

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

NRAS

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA KRAS & NRAS PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

MACROCEPHALY PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

NRG1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NRL

Syndromes/panels

RETINITIS PIGMENTOSA

NRXN1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

NSD1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

SOTOS SYNDROME

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

NSDHL

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NSMF

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

NSUN2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NT5C2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NTHL1

Syndromes/panels

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

NTNG1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

NTRK1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

NEUROPATHIES, HEREDITARY

NTRK2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ENDOMETRIAL CANCER

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GLIOBLASTOMA

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

NTRK3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GLIOBLASTOMA

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

NTRK3

Syndromes/panels

ENDOMETRIAL CANCER

NUF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NUP214

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NUP37

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

NUP93

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NUS1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

NUTM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NXF5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NXN

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ROBINOW SYNDROME

OAT

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

OBESITY, MONOGENIC

OCRL

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

OFD1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

JOUBERT SYNDROME (JBTS)
extended panel

MACROCEPHALY PANEL

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

OVERGROWTH SYNDROMES PANEL

RETINITIS PIGMENTOSA

OGT

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

OPA1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

NEUROPATHIES, HEREDITARY

OPA3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

OPCML

Syndromes/panels

COMPREHENSIVE CANCER PANEL

OPHN1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ORAI1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

MYOPATHIES, CONGENITAL extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

OSBPL2

Syndromes/panels

DEAFNESS/HEARING LOSS

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL DOMINANT
core panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

OSTEOPOROSIS

OTC

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

OTOA

Syndromes/panels

DEAFNESS/HEARING LOSS

OTOF

Syndromes/panels

DEAFNESS/HEARING LOSS

OTOG

Syndromes/panels

DEAFNESS/HEARING LOSS

OTOGL

Syndromes/panels

DEAFNESS/HEARING LOSS

Otospondylomegaepiphyseal dysplasia (OSMED)

OVARIAN CANCER

OVARIAN DYSGENESIS

OVERGROWTH SYNDROMES PANEL

P2RX2

Syndromes/panels

DEAFNESS/HEARING LOSS

P2RY8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

P3H1

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

P4HB

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

PACS1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PAFAH1B1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PAH

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

NEWBORN TESTING

PHENYLKETONURIA

VERAgene NIPT

PAK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PAK3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PAK7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PALB2

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PROSTATE CANCER

PANCREATIC CANCER

PANCREATIC TUMORS

PANCREATITIS

PANK2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PARK2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PARP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PARP2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PARP3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PARS2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

partialandmosaicchangesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

Amfira PGT-SR

partialormosaicchromosomalaneuploidiesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

Amfira PGT-A

PATAU SYNDROME (TRISOMY 13)

PAX2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

Lower urinary tract obstruction (LUTO), congenital

NEPHRONOPHTHISIS (NPHP)
extended panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

PAX3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

WAARDENBURG SYNDROME (WS)

PAX3::FOXO1

Syndromes/panels

SARCOMA

PAX4

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

PAX5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PAX7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PAX7::FOXO1

Syndromes/panels

SARCOMA

PAX8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

NEWBORN TESTING

PBRM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PBX1

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PCARE

Syndromes/panels

RETINITIS PIGMENTOSA

PCBD1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

PCCA

Syndromes/panels

PROPIONIC ACIDEMIA

PCCB

Syndromes/panels

PROPIONIC ACIDEMIA

PCDH11X

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PCDH15

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

VERAgene NIPT

PCDH19

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DRAVET SYNDROME

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

PCNT

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

PCSK9

Syndromes/panels

HYPERCHOLESTEROLEMIA, FAMILIAL extended panel

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL

PD-1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PD-L1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PD-L2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PDCD1

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PDCD1LG2

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PDE10A

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

PDE1C

Syndromes/panels

DEAFNESS/HEARING LOSS

PDE6A

Syndromes/panels

RETINITIS PIGMENTOSA

PDE6B

Syndromes/panels

RETINITIS PIGMENTOSA

PDE6D

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

PDE6G

Syndromes/panels

RETINITIS PIGMENTOSA

PDGFRA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PDGFRB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PDHA1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PDHB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

PDHX

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PDK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PDK3

Syndromes/panels

NEUROPATHIES, HEREDITARY

PDLIM3

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PDPK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PDSS2

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

PDX1

Syndromes/panels

MATURITY ONSET DIABETES OF THE YOUNG (MODY)

PDYN

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PDZD7

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

USHER SYNDROME (USH)

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

PENDRED SYNDROME

PERIODIC FEVER SYNDROMES

Perrault syndrome

PEX1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VERAgene NIPT

PEX10

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX11B

Syndromes/panels

EVARTIA METABOLIC PANEL

PEX12

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX13

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX14

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX16

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX19

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VERAgene NIPT

PEX26

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX3

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX5

Syndromes/panels

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

PEX7

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

Pfeiffer syndrome

PFKM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

VERAgene NIPT

PGAM2

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

PGAP1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PGAP2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PGAP3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PGBD5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PGK1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PGM1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

PGR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PHACTR1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

PHC1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

PHENYLKETONURIA

PHF6

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PHF8

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PHGDH

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

PHKA1

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

PHKA2

Syndromes/panels

EVARTIA METABOLIC PANEL

PHKB

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

PHKG2

Syndromes/panels

EVARTIA METABOLIC PANEL

PHOX2B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PHYH

Syndromes/panels

EVARTIA METABOLIC PANEL

PHYKPL

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

PIEZO2

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

PIGA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GPI ANCHOR DEFICIENCY PANEL

MACROCEPHALY PANEL

PIGB

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GPI ANCHOR DEFICIENCY PANEL

PIGC

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGG

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGH

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGL

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGM

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGN

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

MACROCEPHALY PANEL

PIGO

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GPI ANCHOR DEFICIENCY PANEL

PIGQ

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

GPI ANCHOR DEFICIENCY PANEL

PIGS

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGT

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

MACROCEPHALY PANEL

PIGU

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGV

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

MACROCEPHALY PANEL

PIGW

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIGY

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

GPI ANCHOR DEFICIENCY PANEL

PIH1D3

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

PIK3C2B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3C2G

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3C3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3CA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PIK3CA & AKT1 PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

PIK3CB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PIK3CD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3CG

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3R1

Syndromes/panels

Agammaglobulinemia

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PIK3R2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

PIK3R3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PIK3R5

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PIM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PITT-HOPKINS SYNDROME

PITX2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

PJVK

Syndromes/panels

DEAFNESS/HEARING LOSS

PKD1

Syndromes/panels

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

PKD1L1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

HETEROTAXY

HETEROTAXY WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

PKD2

Syndromes/panels

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

PKHD1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (ARPKD)

VERAgene NIPT

PKLR

Syndromes/panels

HYDROPS FETALIS

PKP2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

BRUGADA SYNDROME

DILATED CARDIOMYOPATHY (DCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PLA2G6

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

PLCB1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

PLCE1

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

PLCG2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PLD1

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

PLD3

Syndromes/panels

ATAXIAS

PLEC

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, MYOFIBRILLAR

PLEKHG5

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

PLK2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PLN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PLOD1

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC (kEDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PLOD2

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

PLOD3

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

PLP1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RETT SYNDROME AND RELATED DISORDERS PANEL

PLPBP

Syndromes/panels

EPILEPSY

EPILEPSY, THERAPY RELEVANT

PLS1

Syndromes/panels

DEAFNESS/HEARING LOSS

PLS3

Syndromes/panels

OSTEOPOROSIS

PMAIP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PML

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PMM2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VERAgene NIPT

PMP22

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

NEUROPATHIES, HEREDITARY

NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES

PMPCA

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PMS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PMS2

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

PROSTATE CANCER

SKIN TUMORS

PNKP

Syndromes/panels

ATAXIAS

AUTISM SPECTRUM DISORDERS PANEL

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

PNP

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

PNPLA6

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PNPO

Syndromes/panels

EPILEPSY

EPILEPSY, THERAPY RELEVANT

PNPT1

Syndromes/panels

DEAFNESS/HEARING LOSS

PNRC1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

POC1B

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

POF1B

Syndromes/panels

RODINIA FEMALE PANEL

POGZ

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

POLD1

Syndromes/panels

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA PAN-CANCER PANEL

POLE

Syndromes/panels

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ENDOMETRIAL CANCER

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA PAN-CANCER PANEL

POLG

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

NEUROPATHIES, HEREDITARY

RODINIA FEMALE PANEL

POLH

Syndromes/panels

PRESENTIA PAN-CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

POLR3A

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD)

POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (ARPKD)

POLYMICROGYRIA

POMGNT1

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

POMGNT2

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

POMK

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

POMT1

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

POMT2

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

POR

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

PORCN

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PORPHYRIA

POT1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SKIN TUMORS

POU3F4

Syndromes/panels

DEAFNESS/HEARING LOSS

POU4F3

Syndromes/panels

DEAFNESS/HEARING LOSS

PPA2

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PPARG

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PPIB

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

PPIL1

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

PPIP5K2

Syndromes/panels

DEAFNESS/HEARING LOSS

PPM1D

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PPM1K

Syndromes/panels

EVARTIA METABOLIC PANEL

PPOX

Syndromes/panels

PORPHYRIA

PPP1CB

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

MACROCEPHALY PANEL

NOONAN SYNDROME

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

PPP2CA

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PPP2R1A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

PPP2R2A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PPP2R5D

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

PPP3CA

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

PPP4R2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PPP6C

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PPT1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

PQBP1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PRADER-WILLI SYNDROME

PRCD

Syndromes/panels

RETINITIS PIGMENTOSA

PRDM1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRDM12

Syndromes/panels

NEUROPATHIES, HEREDITARY

PRDM14

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRDM16

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PRDM5

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PRDM6

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

PRDM8

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

PREMATURE OVARIAN FAILURE (POF) (extended)

PREMATURE OVARIAN FAILURE (POF) (standard)

PreSENTIA BRCA1 / BRCA2 PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA PARATHYROID CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL

PRESENTIA THYROID CANCER PANEL

PREX2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRICKLE1

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

PRICKLE2

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

PRKAG2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

EVARTIA METABOLIC PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PRKAR1A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRKCG

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PRKCI

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRKD1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

PRKDC

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

PRKG1

Syndromes/panels

AORTIC DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

PRM1

Syndromes/panels

RODINIA MALE PANEL

PRNP

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

CREUTZFELDT–JAKOB DISEASE

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

PROC

Syndromes/panels

PROTEIN C DEFICIENCY

PROK2

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

PROKR2

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

PROM1

Syndromes/panels

RETINITIS PIGMENTOSA

PROP1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

PROPIONIC ACIDEMIA

PROS1

Syndromes/panels

PROTEIN S DEFICIENCY

PROSTATE CANCER

PROTEIN C DEFICIENCY

PROTEIN S DEFICIENCY

PRPF3

Syndromes/panels

RETINITIS PIGMENTOSA

PRPF4

Syndromes/panels

RETINITIS PIGMENTOSA

PRPF6

Syndromes/panels

RETINITIS PIGMENTOSA

PRPF8

Syndromes/panels

RETINITIS PIGMENTOSA

PRPS1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DEAFNESS/HEARING LOSS

NEUROPATHIES, HEREDITARY

PRRT2

Syndromes/panels

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

EPILEPSY, THERAPY RELEVANT

PRSS1

Syndromes/panels

PANCREATITIS

PRSS12

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PRSS8

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PRX

Syndromes/panels

NEUROPATHIES, HEREDITARY

PSAP

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

Krabbe disease

PSEN1

Syndromes/panels

ALZHEIMER‘S DISEASE, EARLY-ONSET

PSEN2

Syndromes/panels

ALZHEIMER‘S DISEASE, EARLY-ONSET

PSEUDOHYPOPARATHYROIDISM

Pseudoxanthoma elasticum

PSMC3IP

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

PTCH1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

MACROCEPHALY PANEL

NeoThetis PAN-CANCER PLUS PANEL

SKIN TUMORS

PTCH2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

SKIN TUMORS

PTCHD1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PTEN

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ENDOCRINE TUMORS

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

MACROCEPHALY PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SKIN TUMORS

UNSPECIFIC TUMOR SYNDROMES

PTH

Syndromes/panels

HYPOPARATHYROIDISM

PTP4A1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PTPN11

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEOPARD SYNDROME

NeoThetis PAN-CANCER PLUS PANEL

NEUROFIBROMATOSIS-NOONAN SYNDROME (NF/NS)

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

PTPRC

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

PTPRD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PTPRN2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PTPRO

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

PTPRQ

Syndromes/panels

DEAFNESS/HEARING LOSS

PTPRS

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PTPRT

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PTS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

PULMONARY ALVEOLAR MICROLITHIASIS (PAM)

PULMONARY ARTERIAL HYPERTENSION (PAH)

PUM1

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

PURA

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PUS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

PUS3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PYCR1

Syndromes/panels

AORTIC DISORDERS PANEL

CUTIS LAXA

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

PYGL

Syndromes/panels

EVARTIA METABOLIC PANEL

PYGM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

PYROXD1

Syndromes/panels

MYOPATHIES, MYOFIBRILLAR

QDPR

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

QKI

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAB23

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CRANIOSYNOSTOSIS
extended panel

VERAgene NIPT

RAB27A

Syndromes/panels

CONGENITAL NEUTROPENIA

RAB35

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAB39B

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

RAB40AL

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RAB7A

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

NEUROPATHIES, HEREDITARY

RABGAP1L

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

RAC1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RAC2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAD21

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

RAD50

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA PAN-CANCER PANEL

RAD51

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

RAD51B

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAD51C

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

RAD51D

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

RAD52

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAD54L

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RAF1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

DILATED CARDIOMYOPATHY (DCM)

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEOPARD SYNDROME

MACROCEPHALY PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

RAG1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

RAG2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMBINED B AND T CELL IMMUNODEFICIENCIES

VERAgene NIPT

RAI1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RANBP2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

EPILEPSY

RANGAP1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RANGRF

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

RAPSN

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RARA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

RARS2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RASA1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

RASA2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

RB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

UNSPECIFIC TUMOR SYNDROMES

RBBP6

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

RBFOX2

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

RBM10

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

RBM20

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

RBMX

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RBP3

Syndromes/panels

RETINITIS PIGMENTOSA

RBPJ

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

RDX

Syndromes/panels

DEAFNESS/HEARING LOSS

RECQL

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COMPREHENSIVE CANCER PANEL

RECQL4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
extended panel

REEP1

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

REL

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RELN

Syndromes/panels

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, FOCAL

REN

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Renal tubular dysgenesis

Renal cysts and diabetes syndrome

Renal tubular dysgenesis

REST

Syndromes/panels

COMPREHENSIVE CANCER PANEL

DEAFNESS/HEARING LOSS

RESTRICTIVE CARDIOMYOPATHY (RCM)

RET

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

ENDOCRINE TUMORS

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA THYROID CANCER PANEL

URINARY TRACT MALFORMATION extended panel

RETINITIS PIGMENTOSA

RETREG1

Syndromes/panels

NEUROPATHIES, HEREDITARY

RETT SYNDROME AND RELATED DISORDERS PANEL

RETT SYNDROME PANEL

RFT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

RFWD2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RFWD3

Syndromes/panels

FANCONI ANEMIA

RFX5

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

RFXANK

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

RFXAP

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

RHD

Syndromes/panels

Rhesus factor

RHEB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

Rhesus factor

RHO

Syndromes/panels

RETINITIS PIGMENTOSA

RHOA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RHOBTB2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RHOH

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

RICTOR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RIPOR2

Syndromes/panels

DEAFNESS/HEARING LOSS

RIT1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MACROCEPHALY PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

RLBP1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

RLIM

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RMRP

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMBINED B AND T CELL IMMUNODEFICIENCIES

rnDHCR7

Syndromes/panels

HYDROPS FETALIS

rnEWSR1::ETV4

Syndromes/panels

SARCOMA

RNF113A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RNF13

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RNF135

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

OVERGROWTH SYNDROMES PANEL

RNF213

Syndromes/panels

AORTIC DISORDERS PANEL

Moyamoya disease

RNF216

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

RNF43

Syndromes/panels

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

rnFUS::ERG

Syndromes/panels

SARCOMA

rnGLUL

Syndromes/panels

HYDROPS FETALIS

rnLIPA

Syndromes/panels

HYDROPS FETALIS

rnNRAS

Syndromes/panels

HYDROPS FETALIS

rnPIEZO1

Syndromes/panels

HYDROPS FETALIS

rnSLC22A5

Syndromes/panels

HYDROPS FETALIS

ROBINOW SYNDROME

ROBO2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Lower urinary tract obstruction (LUTO), congenital

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

ROBO4

Syndromes/panels

AORTIC DISORDERS PANEL

BICUSPID AORTIC VALVE (BAV)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

RODINIA FEMALE PANEL

RODINIA MALE PANEL

RODINIA THROMBOPHILIA & NAIT PANEL

ROGDI

Syndromes/panels

EPILEPSY

ROM1

Syndromes/panels

RETINITIS PIGMENTOSA

ROR1

Syndromes/panels

DEAFNESS/HEARING LOSS

ROR2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

ROBINOW SYNDROME

ROS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

RP1

Syndromes/panels

RETINITIS PIGMENTOSA

RP9

Syndromes/panels

RETINITIS PIGMENTOSA

RPE65

Syndromes/panels

RETINITIS PIGMENTOSA

RPGR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RETINITIS PIGMENTOSA

RPGRIP1L

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

RPL10

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL11

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

HYDROPS FETALIS

RPL15

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL18

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL26

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL27

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL35

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL35A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPL5

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS10

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS14

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

RPS15A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS17

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS19

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS20

Syndromes/panels

COLON CANCER extended panel

RPS24

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS26

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS27

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS28

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS29

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS6KA3

Syndromes/panels

COFFIN-LOWRY SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPS6KA4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RPS6KB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RPS6KB2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RPS7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RPTOR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RRAGC

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RRAS

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

RRAS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

RRM2B

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

RS1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

RSPH1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

RSPH3

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

RSPH4A

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

RSPH9

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

RSPO2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RTEL1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RUBCN

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

RUBINSTEIN-TAYBI SYNDROME

RUNX1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

RUNX1T1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

RUSC2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

RXRA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RXYLT1

Syndromes/panels

MUSCULAR DYSTROPHIES

RYBP

Syndromes/panels

COMPREHENSIVE CANCER PANEL

RYR1

Syndromes/panels

MALIGNANT HYPERTHERMIA

MYOPATHIES, CONGENITAL core panel

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE core panel

MYOPATHIES, CORE extended panel

RYR2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

DILATED CARDIOMYOPATHY (DCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

S1PR2

Syndromes/panels

DEAFNESS/HEARING LOSS

SACS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

NEUROPATHIES, HEREDITARY

Saethre-Chotzen syndrome

SAG

Syndromes/panels

RETINITIS PIGMENTOSA

SALL1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

URINARY TRACT MALFORMATION extended panel

SALL4

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

SAMHD1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

SARCOMA

SASH1

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SASS6

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

SATB2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SBDS

Syndromes/panels

CONGENITAL NEUTROPENIA

SHWACHMAN-BODIAN-DIAMOND SYNDROME (SBDS)

SBF1

Syndromes/panels

NEUROPATHIES, HEREDITARY

SBF2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SCARB2

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

SCARF2

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SCG5

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SCLT1

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

SCN10A

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

EARLY REPOLARIZATION SYNDROME

NEUROPATHIES, HEREDITARY

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN11A

Syndromes/panels

NEUROPATHIES, HEREDITARY

SCN1A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DRAVET SYNDROME

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

EPILEPSY, THERAPY RELEVANT

MIGRAINE, FAMILIAL HEMIPLEGIC

SCN1B

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

DRAVET SYNDROME

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN2A

Syndromes/panels

ATAXIAS

ATAXIAS, EPISODIC

AUTISM SPECTRUM DISORDERS PANEL

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DRAVET SYNDROME

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

RETT SYNDROME AND RELATED DISORDERS PANEL

SCN2B

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN3A

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, FOCAL

SCN3B

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN4A

Syndromes/panels

HYPOKALEMIC PERIODIC PARALYSIS

MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS

SCN4B

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN5A

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

BRUGADA SYNDROME

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

DILATED CARDIOMYOPATHY (DCM)

EARLY REPOLARIZATION SYNDROME

LONG QT SYNDROME (LQTS)

SHORT QT SYNDROME (SQTS)

SINUS NODE DYSFUNCTION

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SCN8A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

SCN9A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DRAVET SYNDROME

EPILEPSY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

NEUROPATHIES, HEREDITARY

SCO2

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SCP2

Syndromes/panels

EVARTIA METABOLIC PANEL

SCYL1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SDC4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SDCCAG8

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SENIOR LOKEN SYNDROME (SLS)

SDHA

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

NERVOUS SYSTEM/BRAIN TUMORS

SDHAF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

NERVOUS SYSTEM/BRAIN TUMORS

PRESENTIA PAN-CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SDHB

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

NERVOUS SYSTEM/BRAIN TUMORS

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SDHC

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

NERVOUS SYSTEM/BRAIN TUMORS

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SDHD

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

GASTROINTESTINAL TUMORS

KIDNEY CANCERS

NERVOUS SYSTEM/BRAIN TUMORS

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

PRESENTIA RENAL CANCER PANEL

SEC24D

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SELENON

Syndromes/panels

MUSCULAR DYSTROPHIES

MUSCULAR DYSTROPHIES, CONGENITAL

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

SEMA3A

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

SEMA3D

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

SEMA3E

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

SEMA4A

Syndromes/panels

RETINITIS PIGMENTOSA

SENIOR LOKEN SYNDROME (SLS)

SEPSECS

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

VERAgene NIPT

SEPT9

Syndromes/panels

NEUROPATHIES, HEREDITARY

SERAC1

Syndromes/panels

EVARTIA METABOLIC PANEL

SERPINB3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SERPINB4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SERPINB6

Syndromes/panels

DEAFNESS/HEARING LOSS

SERPINC1

Syndromes/panels

ANTITHROMBIN DEFICIENCY (ATIII DEFICIENCY), HEREDITARY

SERPINF1

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

SERPINH1

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

SESN1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SESN2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SESN3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SET

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SETBP1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SETD2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

SETD5

Syndromes/panels

AORTIC DISORDERS PANEL

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

Moyamoya disease

SETDB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SETX

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

CHOREATIC MOVEMENT DISORDERS extended panel

Severe combined immunodeficiency, X-linked (X-SCID)

SF3B1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SF3B4

Syndromes/panels

HYDROPS FETALIS

SFTPB

Syndromes/panels

INTERSTITIAL LUNG DISEASE (ILD)

SFTPC

Syndromes/panels

INTERSTITIAL LUNG DISEASE (ILD)

SGCA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

SGCB

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VERAgene NIPT

SGCD

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SGCG

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

SGK1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SGO1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

SGSH

Syndromes/panels

EVARTIA METABOLIC PANEL

MUCOPOLYSACCHARIDOSIS

SH2B3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SH2D1A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED

SH3TC2

Syndromes/panels

CHARCOT-MARIE-TOOTH DISEASE

NEUROPATHIES, HEREDITARY

SHANK2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SHANK3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SHOC2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MACROCEPHALY PANEL

NOONAN SYNDROME

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SHORT QT SYNDROME (SQTS)

SHORT RIB THORACIC DYSPLASIA
core panel

SHORT RIB THORACIC DYSPLASIA
extended panel

SHOX

Syndromes/panels

Langer mesomelic dysplasia

LÉRI-WEILL DYSCHONDROSTEOSIS

SHPRINTZEN-GOLDBERG SYNDROME (SGS)

SHQ1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SHWACHMAN-BODIAN-DIAMOND SYNDROME (SBDS)

SICKLE CELL DISEASE

SIDEROBLASTIC ANEMIA

SIGMAR1

Syndromes/panels

NEUROPATHIES, HEREDITARY

SIK1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

SIL1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SINUS NODE DYSFUNCTION

SIX1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

DEAFNESS/HEARING LOSS

SIX2

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

SIX5

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

SKI

Syndromes/panels

AORTIC DISORDERS PANEL

CRANIOSYNOSTOSIS
extended panel

MARFAN-LIKE DISORDERS PANEL

SHPRINTZEN-GOLDBERG SYNDROME (SGS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SKIN TUMORS

SLC12A3

Syndromes/panels

GITELMAN SYNDROME

SLC12A5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SLC12A6

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NEUROPATHIES, HEREDITARY

VERAgene NIPT

SLC13A5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SLC16A2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SLC17A5

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

SLC17A8

Syndromes/panels

DEAFNESS/HEARING LOSS

SLC18A2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

SLC1A2

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SLC1A3

Syndromes/panels

ATAXIAS

ATAXIAS, EPISODIC

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SLC22A4

Syndromes/panels

DEAFNESS/HEARING LOSS

SLC22A5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

EVARTIA METABOLIC PANEL

SHORT QT SYNDROME (SQTS)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC25A12

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SLC25A13

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

VERAgene NIPT

SLC25A15

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

UREA CYCLE DISORDERS

VERAgene NIPT

SLC25A20

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

MITOCHONDRIAL CARNITINE-ACYLCARNITINE CYCLE DISORDERS

NEWBORN TESTING

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC25A22

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SLC25A3

Syndromes/panels

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC25A4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

HYPERTROPHIC CARDIOMYOPATHY (HCM)

METABOLIC MYOPATHIES

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC25A46

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NEUROPATHIES, HEREDITARY

SLC25A5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SLC26A2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

SLC26A4

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

PENDRED SYNDROME

VERAgene NIPT

SLC26A5

Syndromes/panels

DEAFNESS/HEARING LOSS

SLC29A1

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SLC2A1

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, THERAPY RELEVANT

GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME

SLC2A10

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC2A2

Syndromes/panels

EVARTIA METABOLIC PANEL

SLC34A2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

PULMONARY ALVEOLAR MICROLITHIASIS (PAM)

SLC35A1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

SLC35A2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EVARTIA METABOLIC PANEL

SLC35A3

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

SLC35C1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

SLC37A4

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

CONGENITAL NEUTROPENIA

EVARTIA METABOLIC PANEL

VERAgene NIPT

SLC39A13

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SLC39A8

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

SLC40A1

Syndromes/panels

HEMOCHROMATOSIS, HEREDITARY extended panel

SLC41A1

Syndromes/panels

NEPHRONOPHTHISIS (NPHP)
extended panel

SLC4A1

Syndromes/panels

SPHEROCYTOSIS, HEREDITARY

SLC4A11

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

SLC4A3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SHORT QT SYNDROME (SQTS)

SLC5A7

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

SLC6A1

Syndromes/panels

EPILEPSY

EPILEPSY, ABSENCE

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

SLC6A17

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SLC6A3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

SLC6A5

Syndromes/panels

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

SLC6A8

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EVARTIA METABOLIC PANEL

SLC6A9

Syndromes/panels

EVARTIA METABOLIC PANEL

SLC7A14

Syndromes/panels

RETINITIS PIGMENTOSA

SLC7A7

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

SLC8A1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

SINUS NODE DYSFUNCTION

SLC9A1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SLC9A6

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SLFN11

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SLIT2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SLITRK6

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

SLX4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

FANCONI ANEMIA

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

SMAD1

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

SMAD2

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

LOEYS-DIETZ SYNDROME (LDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

SMAD3

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

LOEYS-DIETZ SYNDROME (LDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

SMAD4

Syndromes/panels

AORTIC DISORDERS PANEL

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

ISOLATED CONGENITAL HEART DEFECTS PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PULMONARY ARTERIAL HYPERTENSION (PAH)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

SMAD6

Syndromes/panels

AORTIC DISORDERS PANEL

BICUSPID AORTIC VALVE (BAV)

CONGENITAL HEART DEFECTS PANEL

CRANIOSYNOSTOSIS
extended panel

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

SMAD9

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

SMARCA2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SMARCA4

Syndromes/panels

BREAST AND OVARIAN CANCER extended panel

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NERVOUS SYSTEM/BRAIN TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PRESENTIA PAN-CANCER PANEL

SMARCAL1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

SMARCB1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BREAST AND OVARIAN CANCER extended panel

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NERVOUS SYSTEM/BRAIN TUMORS

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SMARCC2

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SMARCD1

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SMARCD2

Syndromes/panels

CONGENITAL NEUTROPENIA

SMARCE1

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

NERVOUS SYSTEM/BRAIN TUMORS

SMC1A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SMC3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CORNELIA DE LANGE SYNDROME PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SMITH-LEMLI-OPITZ SYNDROME

SMITH-MAGENIS SYNDROME (17p11.2)

SMN1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Spinal Muscular Atrophy Focus Panel

SPINAL MUSCULAR ATROPHIES TYPE I, II, III, IV

SMN2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

Adventia Carrier Screening Spinal Muscular Atrophy Focus Panel

SMO

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SMPD1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

Adventia Carrier Screening Core Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

Niemann-Pick disease

SMPD4

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SMPX

Syndromes/panels

DEAFNESS/HEARING LOSS

SMS

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SMYD3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SNAI2

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

WAARDENBURG SYNDROME (WS)

SNCAIP

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SNRNP200

Syndromes/panels

RETINITIS PIGMENTOSA

SNTA1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

SNTG2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SNX14

Syndromes/panels

ATAXIAS

AUTISM SPECTRUM DISORDERS PANEL

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOCS1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SOHLH1

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

SOHLH2

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

SOLID TUMORS IN GENERAL

SON

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOS1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

MACROCEPHALY PANEL

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SOS2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

NOONAN SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SOTOS SYNDROME

SOX10

Syndromes/panels

COMPREHENSIVE CANCER PANEL

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

NEUROPATHIES, HEREDITARY

WAARDENBURG SYNDROME (WS)

SOX11

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOX17

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel

URINARY TRACT MALFORMATION core panel

URINARY TRACT MALFORMATION extended panel

SOX2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SOX3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOX4

Syndromes/panels

COFFIN-SIRIS SYNDROME

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOX5

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SOX9

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SP7

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

SPAG1

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
core panel

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

SPECC1L

Syndromes/panels

CRANIOSYNOSTOSIS
extended panel

SPEG

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

SPEN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SPG11

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPG7

Syndromes/panels

ATAXIAS

ATAXIAS, SPASTIC core panel

ATAXIAS, SPASTIC extended panel

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SPHEROCYTOSIS, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES TYPE I, II, III, IV

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

SPINK1

Syndromes/panels

PANCREATITIS

SPNS2

Syndromes/panels

DEAFNESS/HEARING LOSS

Spondyloepiphyseal dysplasia

Spontaenous abortion diagnostics

SPOP

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

SPR

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

SPRED1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

HYDROPS FETALIS

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEGIUS SYNDROME

RASOPATHIES PANEL

RASOPATHIES WITH HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

SPRTN

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SPRY4

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

SPTA1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SPHEROCYTOSIS, HEREDITARY

SPTAN1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SPTB

Syndromes/panels

SPHEROCYTOSIS, HEREDITARY

SPTBN2

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SPTBN4

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

SPTLC1

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPTLC2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SRC

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SRCAP

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SRD5A1

Syndromes/panels

RODINIA MALE PANEL

SRD5A3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

SRPX2

Syndromes/panels

EPILEPSY

SRSF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

SRY

Syndromes/panels

RODINIA MALE PANEL

SS18::SSX1

Syndromes/panels

SARCOMA

SS18::SSX4

Syndromes/panels

SARCOMA

SSR4

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

ST3GAL3

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

STAC3

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

STAG1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

STAG2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

STAG3

Syndromes/panels

PREMATURE OVARIAN FAILURE (POF) (extended)

RODINIA FEMALE PANEL

STAMBP

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA RASOPATHIES PANEL

STAR

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

STAT3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CRANIOSYNOSTOSIS
extended panel

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

NeoThetis PAN-CANCER PLUS PANEL

STAT4

Syndromes/panels

COMPREHENSIVE CANCER PANEL

STAT5A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

STAT5B

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

STICKLER SYNDROME (STL)

STIL

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MICROCEPHALY PANEL

STIM1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

MYOPATHIES, CONGENITAL extended panel

STK11

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER core panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

GASTROINTESTINAL TUMORS

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL

PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

UNSPECIFIC TUMOR SYNDROMES

STK19

Syndromes/panels

COMPREHENSIVE CANCER PANEL

STK4

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

STK40

Syndromes/panels

COMPREHENSIVE CANCER PANEL

STRC

Syndromes/panels

DEAFNESS/HEARING LOSS

STT3A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

STT3B

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

STUB1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

STX1B

Syndromes/panels

EPILEPSY

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

STXBP1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

RETT SYNDROME AND RELATED DISORDERS PANEL

SUCLA2

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

SUCLG1

Syndromes/panels

EVARTIA METABOLIC PANEL

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

SUFU

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

SKIN TUMORS

SUMF1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

EVARTIA METABOLIC PANEL

HYDROPS FETALIS

VERAgene NIPT

SURF1

Syndromes/panels

NEUROPATHIES, HEREDITARY

SUZ12

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

HYDROPS FETALIS

NeoThetis PAN-CANCER PLUS PANEL

SYK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

SYN1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

SYNE1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

SYNE2

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

SYNE4

Syndromes/panels

DEAFNESS/HEARING LOSS

SYNGAP1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SYNJ1

Syndromes/panels

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SYP

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

SYT14

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

SYT2

Syndromes/panels

NEUROPATHIES, HEREDITARY

SZT2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

TAB2

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TAC3

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

TACR3

Syndromes/panels

RODINIA FEMALE PANEL

RODINIA MALE PANEL

TAF1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TAF13

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TAF2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TAFAZZIN

Syndromes/panels

EVARTIA METABOLIC PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TALDO1

Syndromes/panels

HYDROPS FETALIS

TANGIER DISEASE

TAP1

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

TAP2

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

COMPREHENSIVE CANCER PANEL

TAPBP

Syndromes/panels

COMBINED B AND T CELL IMMUNODEFICIENCIES

TAY-SACHS DISEASE

TAZ

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CONGENITAL NEUTROPENIA

DILATED CARDIOMYOPATHY (DCM)

HYDROPS FETALIS

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

TBC1D23

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TBC1D24

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

DEAFNESS/HEARING LOSS

EPILEPSY

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

TBC1D32

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

TBC1D7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

TBCD

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TBCK

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TBL1XR1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TBP

Syndromes/panels

CHOREATIC MOVEMENT DISORDERS core panel

CHOREATIC MOVEMENT DISORDERS extended panel

TBR1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TBX1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TBX20

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TBX3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

TBX4

Syndromes/panels

PULMONARY ARTERIAL HYPERTENSION (PAH)

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA PULMONARY HYPERTENSION (PH) PANEL

TBX5

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TCAP

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

MUSCULAR DYSTROPHIES, CONGENITAL

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TCEB1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TCF12

Syndromes/panels

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

TCF3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

TCF4

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PITT-HOPKINS SYNDROME

RETT SYNDROME AND RELATED DISORDERS PANEL

TCF7L2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TCL1A

Syndromes/panels

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

TCTN1

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

TCTN2

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

TCTN3

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

SHORT RIB THORACIC DYSPLASIA
extended panel

TDP1

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

NEUROPATHIES, HEREDITARY

TDP2

Syndromes/panels

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TECR

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TECRL

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

TECTA

Syndromes/panels

DEAFNESS/HEARING LOSS

TEK

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE)

TERT

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

TERTpromotor

Syndromes/panels

GLIOBLASTOMA

testingforwhole

Syndromes/panels

Amfira PGT-SR

TET1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TET2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

TEX11

Syndromes/panels

AZOOSPERMIA (extended)

TFAP2B

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TFE3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TFG

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

TFR2

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

HEMOCHROMATOSIS, HEREDITARY extended panel

TFRC

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TGFB2

Syndromes/panels

AORTIC DISORDERS PANEL

LOEYS-DIETZ SYNDROME (LDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TGFB3

Syndromes/panels

AORTIC DISORDERS PANEL

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

LOEYS-DIETZ SYNDROME (LDS)

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TGFBR1

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

CRANIOSYNOSTOSIS
extended panel

ISOLATED CONGENITAL HEART DEFECTS PANEL

LOEYS-DIETZ SYNDROME (LDS)

MARFAN SYNDROME (MFS)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TGFBR2

Syndromes/panels

AORTIC DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

CONGENITAL HEART DEFECTS PANEL

CRANIOSYNOSTOSIS
extended panel

ISOLATED CONGENITAL HEART DEFECTS PANEL

LOEYS-DIETZ SYNDROME (LDS)

MARFAN SYNDROME (MFS)

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

VENTRILIA AORTOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TGM1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VERAgene NIPT

TGM6

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TH

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

THADA

Syndromes/panels

RODINIA FEMALE PANEL

THANATOPHORIC DYSPLASIA

Thin-basement-membrane nephropathy (Hematuria, benign familial)

THOC2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD)

THROMBOPHILIA

TIMM50

Syndromes/panels

EVARTIA METABOLIC PANEL

TIMM8A

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TIPARP

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TJP2

Syndromes/panels

DEAFNESS/HEARING LOSS

TK2

Syndromes/panels

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TLK2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TLL1

Syndromes/panels

CONGENITAL HEART DEFECTS PANEL

ISOLATED CONGENITAL HEART DEFECTS PANEL

SYNDROMIC CONGENITAL HEART DEFECTS PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TMC1

Syndromes/panels

DEAFNESS/HEARING LOSS

TMCO1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

MACROCEPHALY PANEL

TMEM107

Syndromes/panels

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

TMEM127

Syndromes/panels

COMPREHENSIVE CANCER PANEL

ENDOCRINE TUMORS

TMEM132E

Syndromes/panels

DEAFNESS/HEARING LOSS

TMEM138

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

TMEM165

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

TMEM199

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

TMEM216

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

VERAgene NIPT

TMEM231

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
core panel

OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL)
extended panel

TMEM237

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

TMEM240

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TMEM260

Syndromes/panels

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TMEM38B

Syndromes/panels

OSTEOGENESIS IMPERFECTA
extended panel

OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE
core panel

TMEM43

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TMEM67

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

BARDET-BIEDL SYNDROME (BBS) extended panel

JOUBERT SYNDROME (JBTS)
core panel

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
core panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

TMEM70

Syndromes/panels

EVARTIA METABOLIC PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TMIE

Syndromes/panels

DEAFNESS/HEARING LOSS

TMLHE

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TMPRSS2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE CANCER PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PROSTATE CANCER PANEL

TMPRSS3

Syndromes/panels

DEAFNESS/HEARING LOSS

TMTC3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TNC

Syndromes/panels

DEAFNESS/HEARING LOSS

TNF RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME (TRAPS)

TNFAIP3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TNFRSF14

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TNIK

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TNNC1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TNNI3

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TNNI3K

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

TNNT1

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, NEMALINE

TNNT2

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TNPO3

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

TNXB

Syndromes/panels

AORTIC DISORDERS PANEL

EHLERS-DANLOS SYNDROME (EDS)

EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES

EHLERS-DANLOS SYNDROME, CLASSICAL-LIKE (clEDS)

Tobeconfirmed

Syndromes/panels

HOLOPROSENCEPHALY

POLYMICROGYRIA

TOE1

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TOP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TOP2A

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TOPORS

Syndromes/panels

RETINITIS PIGMENTOSA

TP53

Syndromes/panels

BREAST AND OVARIAN CANCER core panel

BREAST AND OVARIAN CANCER extended panel

COLON CANCER extended panel

COMPREHENSIVE CANCER PANEL

ENDOMETRIAL CANCER

ForeSENTIA BREAST-GYNECOLOGICAL PANEL

ForeSENTIA COLORECTAL PANEL

ForeSENTIA GLIOMA PANEL

ForeSENTIA LUNG (NSCLC) PANEL

ForeSENTIA MELANOMA PANEL

ForeSENTIA PAN-CANCER PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

ForeSENTIA PROSTATE PANEL

NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL

NeoThetis COLORECTAL CANCER PANEL

NeoThetis GASTRIC CANCER PANEL

NeoThetis MELANOMA CANCER PANEL

NeoThetis NSCLC CANCER PANEL

NeoThetis PAN-CANCER PANEL

NeoThetis PAN-CANCER PLUS PANEL

NeoThetis PANCREATIC CANCER PANEL

NeoThetis PROSTATE CANCER PANEL

NERVOUS SYSTEM/BRAIN TUMORS

PANCREATIC TUMORS

PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL

PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL

PreSENTIA BREAST HIGH RISK PANEL

PRESENTIA COLORECTAL CANCER PANEL

PRESENTIA FAMILIAL MELANOMA CANCER PANEL

PRESENTIA GASTRIC CANCER PANEL

PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

PRESENTIA PAN-CANCER PANEL

PRESENTIA PANCREATIC CANCER PANEL

PRESENTIA PROSTATE CANCER PANEL

PRESENTIA RENAL CANCER PANEL

UNSPECIFIC TUMOR SYNDROMES

TP53rn

Syndromes/panels

COLON CANCER core panel

TP53BP1

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TP63

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TPH2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL

TPM1

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL

TPM2

Syndromes/panels

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

MYOPATHIES, NEMALINE

TPM3

Syndromes/panels

MYOPATHIES, CONGENITAL core panel

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

MYOPATHIES, NEMALINE

TPMT

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TPP1

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

EVARTIA METABOLIC PANEL

VERAgene NIPT

TPRN

Syndromes/panels

DEAFNESS/HEARING LOSS

TRAF2

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TRAF3IP1

Syndromes/panels

SENIOR LOKEN SYNDROME (SLS)

TRAF7

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TRAP1

Syndromes/panels

CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel

Kidney agenesis/dysgenesis (core panel)

Kidney agenesis/dysgenesis (extended panel)

URINARY TRACT MALFORMATION extended panel

TRAPPC11

Syndromes/panels

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

TRAPPC9

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TRDN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)

LONG QT SYNDROME (LQTS)

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

TRIM2

Syndromes/panels

NEUROPATHIES, HEREDITARY

TRIM32

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

MUSCULAR DYSTROPHIES, PROGRESSIVE core panel

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

TRIO

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TRIOBP

Syndromes/panels

DEAFNESS/HEARING LOSS

TRIP12

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TRIP13

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TRIP4

Syndromes/panels

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

TRIPLE X SYNDROME (TRISOMY X)

Trisomy13

Syndromes/panels

PATAU SYNDROME (TRISOMY 13)

Trisomy18

Syndromes/panels

EDWARDS SYNDROME (TRISOMY 18)

TRMT1

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TRMU

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

TRPC3

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TRPC6

Syndromes/panels

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel

NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel

TRPM4

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

BRUGADA SYNDROME

CARDIAC CONDUCTION DISORDER, PROGRESSIVE

VENTRILIA ARRHYTHMIA PANEL

VENTRILIA COMPREHENSIVE PANEL

TRPV4

Syndromes/panels

NEUROPATHIES, HEREDITARY

SPINAL MUSCULAR ATROPHIES (non-5q-SMA)

SPINAL MUSCULAR ATROPHIES, LATE-ONSET

SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA

TRRAP

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSC1

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

TSC2

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE CANCER PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

ForeSENTIA PAN-CANCER PLUS PANEL

NeoThetis PAN-CANCER PLUS PANEL

TSEN15

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSEN2

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSEN34

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSEN54

Syndromes/panels

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSFM

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

VERAgene NIPT

TSHR

Syndromes/panels

COMPREHENSIVE CANCER PANEL

NEWBORN TESTING

TSPAN7

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TSPEAR

Syndromes/panels

DEAFNESS/HEARING LOSS

TSR2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TTBK2

Syndromes/panels

ATAXIAS

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TTC21B

Syndromes/panels

ATAXIAS

ATAXIAS, SYNDROMIC

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

JOUBERT SYNDROME (JBTS)
extended panel

MECKEL-GRUBER SYNDROME (MKS)
extended panel

NEPHRONOPHTHISIS (NPHP)
extended panel

SHORT RIB THORACIC DYSPLASIA
core panel

SHORT RIB THORACIC DYSPLASIA
extended panel

TTC25

Syndromes/panels

PRIMARY CILIARY DYSKINESIA (PCD)
extended panel

TTC8

Syndromes/panels

BARDET-BIEDL SYNDROME (BBS) extended panel

BARDET-BIEDL SYNDROME (Core Panel)

TTI2

Syndromes/panels

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TTN

Syndromes/panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

ATRIAL FIBRILLATION

DILATED CARDIOMYOPATHY (DCM)

LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC)

MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel

MYOPATHIES, CONGENITAL extended panel

MYOPATHIES, CORE extended panel

MYOPATHIES, MYOFIBRILLAR

RESTRICTIVE CARDIOMYOPATHY (RCM)

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TTPA

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

ATAXIAS

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

TTR

Syndromes/panels

AMYLOIDOSIS

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

DILATED CARDIOMYOPATHY (DCM)

HYPERTROPHIC CARDIOMYOPATHY (HCM)

NEUROPATHIES, HEREDITARY

VENTRILIA CARDIOMYOPATHY PANEL

VENTRILIA COMPREHENSIVE PANEL

TUBA1A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBA8

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBB

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBB2A

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBB2B

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBB3

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TUBG1

Syndromes/panels

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

TULP1

Syndromes/panels

RETINITIS PIGMENTOSA

TURNER SYNDROME (MONOSOMY X)

TUSC3

Syndromes/panels

AUTISM SPECTRUM DISORDERS PANEL

COMPREHENSIVE DEVELOPMENTAL DISORDERS PANEL

CONGENITAL DISORDERS OF GLYCOSYLATION PANEL

EVARTIA METABOLIC PANEL

TWIST1

Syndromes/panels

CRANIOSYNOSTOSIS
core panel

CRANIOSYNOSTOSIS
extended panel

Saethre-Chotzen syndrome

TWNK

Syndromes/panels

Deafness / hearing loss, syndromic

DEAFNESS/HEARING LOSS

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

Perrault syndrome

TYMP

Syndromes/panels

Adventia Carrier Screening Comprehensive Panel

METABOLIC MYOPATHIES

METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY

Type 1 fibrillinopathies

TYRO3

Syndromes/panels

COMPREHENSIVE CANCER PANEL

TYROSINEMIA, TYPE I

u00a0B4GALT7

Syndromes/panels

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC (spEDS)

u00a0DOLK

Syndromes/panels

DILATED CARDIOMYOPATHY (DCM)

u00a0IL1RN

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0IL36RN

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0LDHA

Syndromes/panels

EVARTIA METABOLIC PANEL

u00a0LPIN2

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0MEFV

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0MVK

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0NLRC4

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0NLRP12

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0NLRP3

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0NOD2

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0PAH

Syndromes/panels

Adventia Carrier Screening Core Panel

u00a0PSMB8

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0PSTPIP1

Syndromes/panels

PERIODIC FEVER SYNDROMES

u00a0SLC16A1

Syndromes/panels

EVARTIA METABOLIC PANEL

u00a0SLC39A13

Syndromes/panels

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC (spEDS)

u00a0SMN1

Syndromes/panels

Adventia Carrier Screening Core Panel

u00a0SOS1

Syndromes/panels

HYPERTROPHIC CARDIOMYOPATHY (HCM)

u00a0TMEM173

Syndromes/panels

PERIODIC FEVER SYNDROMES