Test List

5-FU, fluorouracil, capecitabine (Xeloda), DPYD, DPD deficiency testing

AATD

Abacavir Therapy, HLA-B*57:01

Absence seizures

ACG2, Langer-Saldino Type

ACH

Achondrogenesis Type 2

Achondroplasia

ACM

Acrocephalosyndactyly type I

Acrocephalosyndactyly type III

Acrocephalosyndactyly type V

Adventia carrier screening

Adventia: Comprehensive

Adventia: Core

Adventia: Focus Alpha Thalassemia

Adventia: Focus B-Haemoglobinopathies

Adventia: Focus Cystic Fibrosis

Adventia: Focus Dystrophinopathies

Adventia: Focus Fragile X Syndrome

Adventia: Focus Spinal Muscular Atrophy

AF

AIS, complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), minimal androgen insensitivity syndrome (MAIS)

Alagille syndrome

Alcohol intolerance

Aldolase B deficiency

ALGS

Alpha galactosidase A deficiency, GLA deficiency, Morbus Fabry

Alpha thalassaemia

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency – targeted analysis

Alport syndrome

ALS

Alström syndrome

Alzheimer disease

Amfira preimplantation genetic testing (PGT)

Amfira: PGT-A

Amfira: PGT-SR

Amyotrophic lateral sclerosis (ALS)

Androgen insensitivity (AIS)

Angelman syndrome

Ankylosing spondylitis

Antithrombin deficiency

AOA

Apert syndrome

APL, atrichia congenita with papular lesions

Arrhythmias and cardiomyopathies panel

Arrhythmias comprehensive panel

Arrhythmogenic cardiomyopathy (ACM)

AS

AS

AS, Morbus Bechterew, radiographic axial spondyloarthritis

Ataxia with oculomotor apraxia

Ataxias (without repeat expansion analysis)

Atrial fibrillation (AF)

Atrichia with papular lesions (APL)

ATTRv amyloidosis

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Autoimmune polyglandular syndrome type 1, APS-1

Autosomal recessive non-syndromic hearing loss

Autosomal recessive primary microcephaly

Azathioprine (Imurek, Imuran), TPMT, NUDT15, thiopurine methyltransferase, TPMT test

Azoospermia factor (AZF) region of the Y chromosome

BAP1 tumour predisposition syndrome

BAP1-TPDS

Bardet–Biedl syndrome

Bartter syndrome

Basal cell naevus syndrome / Gorlin syndrome

BAV

BBS

BCNS, Nevoid basal cell carcinoma syndrome (NBCCS)

BD, Behçet syndrome

Behçet’s disease

Benign familial neonatal epilepsy

Best disease

Best vitelliform macular dystrophy

Beta thalassaemia

BHDS

Bicuspid aortic valve with risk of aortic valve stenosis and dilatation

Biotinidase deficiency

Birt-Hogg-Dubé syndrome

Bleeding disorders

Blood Disorders

Bone marrow failure syndromes

Brain malformations

Branchio-oto-renal syndrome

BRCA1/2 – therapy guidance (PARP inhibitor response)

Breast Cancer

Breast cancer – fusion gene analysis

Breast cancer – microsatellite instability (MSI)

Breast cancer – sequencing

Breast cancer – targeted analysis

BrS

Brugada syndrome

BS

BTD deficiency

CADASIL/CARASIL

CAH, adrenogenital syndrome

Calcium release deficiency syndrome

Camzyos, CYP2C19, HOCM pharmacogenetics

CAPS, NLRP3-associated autoinflammatory diseases

Carbamazepin Therapy, HLA-B*15:02

Cardiac channelopathies

Cardiofaciocutaneous syndrome

Cardiology comprehensive panel

Cardiology Know&Manage

Cardiomyopathies comprehensive panel

Carnitine Cycle Defects

Carnitine palmitoyltransferase 1 A deficiency, CPT1A, CPT2, Carnitine-acylcarnitine translocase deficiency, CACT

Cataract

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

CBAVD

CBL disorders, vitamin B12 metabolism disorders

CCA, Beals syndrome

CDC73-related disorders / hyperparathyroidism-jaw tumour syndrome (HPT-JT)

CdLS

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral small vessel disease

CF; CFTR; mucoviscidosis, CFTR modulator therapy eligibility; Kaftrio, Alyftrek

CFC syndrome

Charcot-Marie-Tooth disease type 1A (CMT1A)

CHARGE syndrome

CHDs

Choreatic movement disorders (without repeat expansion analysis)

Chromosomal microarray analysis (CMA)

Chylomicronaemia syndrome

Ciliopathies

CJD, genetic Creutzfeldt-Jakob Disease (gCJD)

Classic haemophilia, factor VIII deficiency

CLD

Clinical Exome Sequencing: Postnatal

CLS

CMT1A

CNS

Cobalamin metabolism disorders

Coeliac disease

Coffin–Lowry syndrome

Coffin–Siris syndrome

Colorectal Cancer (CRC)

Colorectal cancer (CRC) – fusion gene analysis

Colorectal cancer (CRC) – microsatellite instability (MSI)

Colorectal cancer (CRC) – MLH1 promoter methylation

Colorectal cancer (CRC) – sequencing

Colorectal cancer (CRC) – targeted analysis

Combined T- and B-cell immunodeficiencies

Common variable immunodeficiency (CVID)

Cone–rod dystrophy

Congenital adrenal hyperplasia

Congenital agammaglobulinaemia

Congenital anomalies of the kidney and urinary tract (CAKUT)

Congenital bilateral absence of the vas deferens (CBAVD)

Congenital chloride diarrhoea

Congenital chloride-losing diarrhoea, CCLD

Congenital contractural arachnodactyly

Congenital disorders of glycosylation (CDG)

Congenital factor V deficiency

Congenital factor VII deficiency

Congenital heart defects comprehensive panel

Congenital lactase deficiency

Congenital myopathies

Congenital neutropenia

Congenital prothrombin deficiency

Connective tissue and aortic disorders

Core myopathies

Cornelia de Lange syndrome

CPVT

Craniofacial dysostosis

Craniosynostosis

CRDS

Creutzfeldt-Jakob disease

Crigler-Najjar syndrome

Crouzon syndrome

Cryopyrin-associated periodic syndrome (CAPS)

CSS

CSVD

Cutis laxa

CVDs

CVID

Cyclic neutropenia / severe congenital neutropenia 1

Cystic fibrosis (CF)

Cytochrome P450 pharmacogenetics; CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5

DCM

Dementia

Dentatorubral pallidoluysian atrophy (DRPLA)

DICER1 syndrome

DICER1 tumour predisposition syndrome

Diffuse parenchymal lung disease

Dihyropyrimidine dehydrogenase deficiency, thymine-uraciluria

Dilated cardiomyopathy (DCM)

Diseases of the Connective Tissue / Skeletal Disorders

Disorder of sex development (46,XY-DSD)

Disorders of fatty acid oxidation

DMD, BMD

Dravet syndrome

DRPLA

Duchenne and Becker muscular dystrophy

Dystonia

Dystrophia myotonica, Steinert disease

Early infantile epileptic encephalopathy

Early Infantile Epileptic Encephalopathy (EIEE), Developmental and Epileptic Encephalopathies (DEEs),

Early repolarisation syndrome

Early-onset Alzheimer disease

Early-onset primary osteoporosis, EOOP

ebiom

ebiom+

ebiomCE

Ectopia lentis

EDMD

EDS, cEDS, vEDS, kEDS, aEDS, dEDS, cvEDS, clEDS, hEDS, clEDS, mEDS, mcEDS, spEDS, BCS, pEDS, HSD

EFMR, PCDH19 clustering epilepsy

Ehlers-Danlos syndrome

Eliglustat, Cerdelga, CYP2D6, CYP2D6 metaboliser status

Emery–Dreifuss muscular dystrophy

Endocrine tumour predisposition panel

Endocrinology

Endometrial Cancer

Endometrial cancer – fusion gene analysis

Endometrial cancer – microsatellite instability (MSI)

Endometrial cancer – MLH1 promoter methylation

Endometrial cancer – sequencing

Endometrial cancer – targeted analysis

endometrial microbiome analysis

EOAD, early-onset familial Alzheimer disease (EOFAD)

Epilepsy comprehensive panel

Epilepsy with febrile seizures plus (GEFS+)

Epilepsy – therapy-relevant panel

Episodic ataxia

Episodic ataxia (EA)

ERS

Evartia: Metabolic Test

Eye disorders comprehensive panel

FA

Fabry disease

Factor II deficiency

Factor V deficiency

Factor V Leiden, 20210G-A mutation in prothrombin

Factor VII deficiency

Factor X deficiency

Factor XI deficiency

Factor XII deficiency

Factor XIII deficiency

Familial adenomatous polyposis (FAP) / MUTYH-associated polyposis (MAP)

Familial atypical multiple mole melanoma syndrome (FAMMM)

Familial chylomicronemia syndrome, FCS

Familial haemiplegic migraine

Familial hypercholesterolaemia

Familial hypobetalipoproteinaemia, FHBL

Familial hypocalciuric hypercalcaemia

Familial isolated pituitary adenoma / AIP-associated pituitary adenoma

Familial Mediterranean fever

FAMMM

Fanconi anaemia

FAOD, MCAD, VLCAD, LCHAD, MADD, TFP

FAP / MAP

Favism

FED

Female-restricted epilepsy with intellectual disability

Fetal rhesus factor determination

FH

FH

FH tumour predisposition syndrome / hereditary leiomyomatosis and renal cell cancer (HLRCC)

FHH

FHM

FIPA, aryl-hydrocarbon receptor-interacting protein (AIP), AIP-FIPA

Fish eye disease (partial LCAT deficiency)

Flexome

FMF

Focal epilepsy

ForeSENTIA Tumour Profile

ForeSENTIA: Breast / Gynecological

ForeSENTIA: Colorectal

ForeSENTIA: Gene-Focused BRAF

ForeSENTIA: Gene-Focused EGFR

ForeSENTIA: Gene-Focused IDH1 & IDH2

ForeSENTIA: Gene-Focused KRAS & NRAS

ForeSENTIA: Gene-Focused PIK3CA & AKT1

ForeSENTIA: Glioma

ForeSENTIA: Lung (NSCLC)

ForeSENTIA: Melanoma

ForeSENTIA: Pan-Cancer Advanced

ForeSENTIA: Pan-Cancer Core

ForeSENTIA: Pan-Cancer Plus

ForeSENTIA: Prostate

Fragile X syndrome

Fragile X-associated primary ovarian insufficiency (FXPOI)

FRDA

Friedreich ataxia

FXPOI

FXS

GA1

Galactosaemia

Galactose-1-phosphate uridylyltransferase (GALT) deficiency

Galafold, GLA, alpha-galactosidase A, Morbus Fabry

Gastrointestinal Disorders

Gastrointestinal Stromal Tumors (GIST)

Gastrointestinal stromal tumours (GIST) – fusion gene analysis

Gastrointestinal stromal tumours (GIST) – microsatellite instability (MSI)

Gastrointestinal stromal tumours (GIST) – sequencing

Gastrointestinal stromal tumours (GIST) – targeted analysis

Gaucher disease

GD

GD

Geleophysic dysplasia

Generalised epilepsy with febrile seizures plus, febrile seizures plus (FS+)

Generalised myoclonic epilepsy

Gerstmann-Sträussler-Scheinker syndrome

Gilbert syndrome

Gitelman syndrome

Glioblastoma

Glioblastoma – fusion gene analysis

Glioblastoma – MGMT promoter methylation

Glioblastoma – microsatellite instability (MSI)

Glioblastoma – sequencing

Glioblastoma – targeted analysis

Globoid cell leukodystrophy, GLD

Glucose transporter type 1 deficiency syndrome (GLUT1DS)

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

Glutaric acidaemia type I

Glycine encephalopathy

Glycogen storage disease type II (Pompe disease)

GNAS inactivation disorders / pseudopseudohypoparathyroidism

GS

GSS syndrome

Haemoglobinopathies

Haemophilia A

Haemophilia B

Hageman trait

Hall-Hittner syndrome , CHD7 disorder

HaT

Hb Bart’s hydrops

Hb Bart’s hydrops fetalis syndrome, HbH disease

HBOC

HCM

HCRC

Hearing loss

Hepatorenal tyrosinaemia

Hereditary agammaglobulinaemia

Hereditary alpha-tryptasaemia

Hereditary angioedema

Hereditary autoinflammatory syndromes

Hereditary breast and ovarian cancer

Hereditary breast and ovarian cancer (HBOC)

Hereditary cancer comprehensive panel

Hereditary cancer Predict&Prevent

Hereditary central nervous system (CNS) tumour syndromes

Hereditary colorectal cancer

Hereditary colorectal cancer

Hereditary diffuse gastric cancer

Hereditary DPD deficiency (thymine–uraciluria)

Hereditary endocrine tumour syndromes

Hereditary endocrine tumours

Hereditary fructose intolerance

Hereditary gastrointestinal cancer

Hereditary gastrointestinal cancer syndromes

Hereditary haemochromatosis

Hereditary haemochromatosis – targeted analysis

Hereditary haemorrhagic telangiectasia

Hereditary multi-tumour syndromes

Hereditary nervous system / brain tumours

Hereditary neuropathies

Hereditary neuropathy with liability to pressure palsy

Hereditary pancreatic cancer syndromes

Hereditary papillary renal carcinoma

Hereditary PGL/PCC syndrome

Hereditary prostate cancer

Hereditary renal cell carcinoma

Hereditary skin tumour syndromes

Hereditary skin tumours

Hereditary spastic paraplegia

Hereditary spherocytosis

Hereditary transthyretin amyloidosis

Hereditary urological cancer

Heterotaxy

HFE-related hereditary hemochromatosis (HH)

HIGM

HLA Characteristics and Disease Association

HLA-A*02:01

HLRCC

HNPP

Host resistance to HIV-1

HPP, alkaline phosphatase deficiency

HPRCC

HPX, "stiff-baby" syndrome, startle disease

HS, hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP)

HSP

Hyper-IgM syndrome

Hyperekplexia

Hyperlipidaemia

Hyperoxaluria

Hyperparathyroidism-jaw tumour syndrome (HPT-JT)

Hypertrophic cardiomyopathy (HCM)

Hypoalphalipoproteinaemia

Hypobetalipoproteinaemia

Hypochondrogenesis

Hypochondroplasia

Hypogonadotropic hypogonadism, Kallmann syndrome

Hypoparathyroidism

Hypophosphataemia

Hypophosphatasia

Idiopathic pulmonary fibrosis (IPF)

Infectiology

Inherited bone marrow failure syndromes, IBMFS

Inherited kidney diseases

Inherited platelet disorders (IPDs)

Inherited thrombocytopenias (IT), immune thrombocytopenia (ITP)

Interstitial lung disease (ILD)

Intracerebral haemorrhage

Irinotecan (Campto, Camptosar; liposomal Onivyde), UGT1A1, UGT1A1 genotyping

Isovaleric acidaemia

Isovaleryl-CoA dehydrogenase deficiency

JAK2, c.1879G>T, p.(Val617Phe)

Jeune / short rib-polydactyly syndrome, SRTD

JME, Janz syndrome

Joubert syndrome

JPS

JS

Juvenile polyposis syndrome

Kabuki syndrome

Kidney agenesis / dysgenesis

KIT variants

KIT, c.2447A>T, p.(Asp816Val)

Kniest Dysplasia

Krabbe disease

Lactose intolerance (adult-onset)

Late-onset Alzheimer disease

LDS, TGF-β, SMAD, LDS1, LDS2, LDS3, LDS4, LDS5, LDS6, LDS7

Leber congenital amaurosis (LCA)

Leber hereditary optic neuropathy (LHON)

Lecanemab (Leqembi), APOE, ApoE ε4 genotyping, ApoE ε4 status

Lecithin-cholesterol acyltransferase (LCAT) deficiency

Left ventricular non-compaction cardiomyopathy (LVNC)

Leri-Weill dyschondrosteosis (LWD), pseudoautosomal region 1 (PAR1)

Leucocyte adhesion deficiency and related disorders

Leukocyte adhesion deficiency

Leukoencephalopathy and leukodystrophy

LFS

LFS, Lujan syndrome

LGMD

Li-Fraumeni syndrome

Limb-girdle muscular dystrophy (LGMD)

Loeys-Dietz syndrome

Long QT syndrome (LQTS)

Lower urinary tract obstruction (LUTO)

LQTS

Lujan–Fryns syndrome

Lung Diseases

Lynch syndrome / hereditary non-polyposis colorectal cancer (HNPCC)

Lysinuric protein intolerance

Lysinuric protein intolerance, LPI

Macrocephaly

Macular dystrophy

Malignant Melanoma

Malignant melanoma – fusion gene analysis

Malignant melanoma – microsatellite instability (MSI)

Malignant melanoma – sequencing

Malignant melanoma – targeted analysis

Maple syrup urine disease (MSUD)

Marfan syndrome

Marshall Syndrome

Maturity-onset diabetes of the young (MODY)

Mayzent, CYP2C9, CYP2C9 genotyping

MCPH

Meckel-Gruber syndrome

MECP2 duplication syndrome

Meester-Loeys syndrome

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS)

MEN syndrome

MEN1

MEN2

MEN4

MERRF

Metabolic Disorders

Metabolic myopathies

Metaphyseal chondrodysplasia type Schmid (MCDS)

Methylenetetrahydrofolate reductase deficiency

Methylmalonic aciduria

Meulengracht syndrome

Mevalonate kinase deficiency

MFMs

MFS, TGF-β

MH, RYR1, CACNA1S, ryanodine receptor, dihydropyridine receptor

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II)

Mitochondrial Diseases (LHON, MELAS, MERRF)

Mitochondrial genome disorder panel

MKD, Hyper-IgD syndrome

MKS

MMA

Monogenic obesity

MOPD II

Morbus pompe

Morbus Wilson

Mowat-Wilson syndrome

Moyamoya disease

MPS, MPS I (Hurler/Scheie), MPS II (Hunter), MPS III (Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy), MPS VII (Sly)

MRLS

MTHFR deficiency

Mucopolysaccharidoses (MPS)

Muenke syndrome

Multiple endocrine neoplasia (MEN) syndromes

Multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 2 (MEN2)

Multiple endocrine neoplasia type 4 (MEN4)

Muscular dystrophies

MWS

Myoclonus epilepsy with ragged-red fibres (MERRF)

Myofibrillar myopathies

Myotonic dystrophy type 1 (DM1)

Narcolepsy

Nemaline myopathy

Neonatal / early-onset spinal muscular atrophy and pontocerebellar hypoplasia

Neonatal severe hyperparathyroidism (NSHPT)

NeoThetis Liquid Biopsy

NeoThetis: Breast / Gynecological

NeoThetis: Colorectal

NeoThetis: Gastric

NeoThetis: Lung (NSCLC)

NeoThetis: Melanoma

NeoThetis: Pan-Cancer

NeoThetis: Pan-Cancer Plus

NeoThetis: Pancreatic

NeoThetis: Prostate

Nephrogenic diabetes insipidus (NDI)

Nephrolithiasis and nephrocalcinosis

Nephrological Disorders

Nephronophthisis

Nephrotic syndrome / focal segmental glomerulosclerosis (FSGS)

Neurofibromatosis Type 1, NF2-Related Schwannomatosis, Legius Syndrome, Differential Diagnoses

Neurofibromatosis type 2

Neurogenetic Diseases

Neuromuscular Disorders

Neuromuscular disorders comprehensive panel

NF2-related schwannomatosis

Niemann-Pick disease

Niikawa-Kuroki syndrome, Kabuki make-up syndrome

Non-compaction cardiomyopathy, NCCM, Left ventricular noncompaction cardiomyopathy, LVNC

Non-dystrophic myotonia and periodic paralysis

Non-invasive foetal RhD determination

Non-Small Cell Lung Cancer (NSCLC)

Non–small cell lung cancer (NSCLC) – fusion gene analysis

Non–small cell lung cancer (NSCLC) – microsatellite instability (MSI)

Non–small cell lung cancer (NSCLC) – sequencing

Non–small cell lung cancer (NSCLC) – targeted analysis

Noonan syndrome

Noonan syndrome with multiple lentigines (LEOPARD syndrome)

Norum disease

NPHP

NS / FSGS

NSHPT

NSML

OFD

OI, brittle bone disease

Oligozoospermia, cryptozoospermia, azoospermia

Optic atrophy

Oreana: Neonatal Screening

Orofaciodigital syndrome

OSMED

Osteogenesis imperfecta

Osteoporosis

Other indications

Otospondylomegaepiphyseal Dysplasia

Ovarian Cancer

Ovarian cancer – fusion gene analysis

Ovarian cancer – microsatellite instability (MSI)

Ovarian cancer – sequencing

Ovarian cancer – targeted analysis

Ovarian dysgenesis

Overgrowth syndromes

PA, propionyl-CoA carboxylase (PCC) deficiency

PADs

Paediatric global delay Define&Decide

Pancreatic Cancer

Pancreatic cancer – fusion gene analysis

Pancreatic cancer – microsatellite instability (MSI)

Pancreatic cancer – sequencing

Pancreatic cancer – targeted analysis

Pancreatic Diseases

Pancreatitis

Parkinson disease

PCCD, Cardiac conduction disorder (CCD)

PD

PDE-ALDH7A1

PDS

Pendred syndrome

Periodic fever syndromes

Perrault syndrome

Peutz-Jeghers syndrome

Pfeiffer syndrome

PGx 5-fluorouracil

PGx abacavir

PGx anaesthesia and pain

PGx azathioprine

PGx carbamazepine

PGx cardiovascular

PGx CYP450 drug response

PGx cystic fibrosis

PGx Diagnostic Testing

PGx donanemab

PGx eliglustat

PGx irinotecan

PGx lecanemab

PGx malignant hyperthermia

PGx mavacamten

PGx metabolic syndrome

PGx migalastat

PGx neurology and psychiatry

PGx oncology

PGx paclitaxel

PGx preventive panel

PGx siponimod

PGx statin

PGx tamoxifen

PGx tebentafusp

PH

Pharmacogenetics

Phenylketonuria (PKU)

Pheochromocytoma paraganglioma syndrome

PHTS

Pitt-Hopkins syndrome

PJS, hamartomatous intestinal polyposis

Polycystic kidney disease (PKD)

Porphyrias

Postnatal genome-wide CNV analysis

Prader-Willi syndrome

Premature ovarian failure (POI)

Premature ovarian insufficiency

Prenatal genome-wide CNV Analysis

PreSENTIA Hereditary Cancer

PreSENTIA: Breast / Gynecological

PreSENTIA: Breast / Gynecological Guidelines-Based

PreSENTIA: Breast High-Risk

PreSENTIA: Colorectal

PreSENTIA: Colorectal High-Risk

PreSENTIA: Colorectal Non-Polyposis

PreSENTIA: Colorectal Polyposis

PreSENTIA: Familial Melanoma

PreSENTIA: Gastric

PreSENTIA: Gene-Focused BRCA1 & BRCA2

PreSENTIA: Myelodysplastic Syndrome / Leukemia

PreSENTIA: Pan-Cancer

PreSENTIA: Pancreatic

PreSENTIA: Paraganglioma / Pheochromocytoma

PreSENTIA: Parathyroid

PreSENTIA: Prostate

PreSENTIA: Renal

PreSENTIA: Skin (XP-Associated)

PreSENTIA: Thyroid

Primary antibody deficiencies

Primary ciliary dyskinesia (PCD)

Primary hypertriglyceridaemia

Progressive cardiac conduction disease (PCCD)

Propionic acidaemia

Prostate Cancer

Prostate cancer – fusion gene analysis

Prostate cancer – microsatellite instability (MSI)

Prostate cancer – sequencing

Prostate cancer – targeted analysis

Protein C deficiency

Protein S deficiency

Prune belly syndrome

Pseudoxanthoma elasticum

PTEN hamartoma tumour syndrome (PHTS)

PTHS

Pulmonary alveolar microlithiasis (PAM)

Pulmonary alveolar proteinosis

Pulmonary arterial hypertension (PAH)

PWS

PXE

Pyridoxine-dependent epilepsy

RASopathies

RCC

RCM

Renal tubular acidosis

Renal tubular dysgenesis

Reproductive Health

Reproductive: Donors-Recipients

Restrictive cardiomyopathy (RCM)

Retinitis pigmentosa (RP)

Retinoblastoma

Rett syndrome

Robinow syndrome

Rodinia infertility

Rodinia: Female Infertility

Rodinia: Male Infertility

Rodinia: Thrombophilia & NAIT

RTD

RTS

RTT

Rubinstein–Taybi syndrome

Saethre-Chotzen syndrome

SCA

SCD

Schmid metaphyseal dysplasia

Schwannomatosis

SED

Senior-Loken syndrome, SLS

Senior–Løken syndrome

Severe combined immunodeficiency, SCID, delayed or late-onset combined immunodeficiency, CID

Severe congenital neutropenia type 1, SCN1, ELANE-related neutropenia

Severe congenital neutropenia, SCN

Severe early-onset obesity (SEOO)

Severe myoclonic epilepsy of infancy, SMEI

SFN

SGS

Short QT syndrome (SQTS)

Short stature

Short-rib thoracic dysplasia with or without polydactyly

SHOX-associated short stature

Shprintzen-Goldberg syndrome

Shwachman-Bodian-Diamond Syndrome, SDS, SBDS

Shwachman-Diamond syndrome

Sickle cell disease

Sideroblastic anaemia

Sinus node disease

Sinus node dysfunction, SND, sick sinus syndrome, sinoatrial node dysfunction

Sitosterolaemia

SMA

SMA, PCH

SMA1-4, 5q-SMA

Small fibre neuropathy

Smith-Lemli-Opitz syndrome (SLOS)

Solid tumour comprehensive molecular profiling

Solid tumours Detect&Act

Sotos syndrome

Spastic ataxia

SPAX

Spermatogenic failure

Spinal muscular atrophy (SMA)

Spinal muscular atrophy (types I–III/IV)

Spinocerebellar ataxia (repeat expansion analysis)

Spinocerebellar ataxia (SCA)

Spondyloepimetaphyseal Dysplasia

SQTS

Stargardt disease

Statin intolerance

Stickler syndrome

STL

Structural brain anomalies, malfunctions of cortical development (MCD)

Syndromic deafness

Syndromic hearing loss

Systemic Mastocytosis (SM)

TAAD

Tangier disease

Targeted SNV testing

Taxol, Abraxane, CYP2C8, CYP2C8 genotyping

Tay-Sachs disease

TD

Thanatophoric dysplasia

Thoracic aortic aneurysm and dissection (TAAD)

Thrombocytopathies

Thrombocytopenia

Thrombophilia

Thrombophilia due to APC resistance (factor V Leiden thrombophilia)

Thrombophilia – APC resistance

Thrombophilia – common variants

Thrombophilia – prothrombin defect

Thyroid Cancer

Thyroid cancer – fusion gene analysis

Thyroid cancer – microsatellite instability (MSI)

Thyroid cancer – sequencing

Thyroid cancer – targeted analysis

TRAPS, TNF receptor-1-associated periodic syndrome

TSC

Tuberous sclerosis complex (TSC)

Tubulointerstitial kidney disease

Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)

Tumour predisposition syndromes

Type II/IX/XI Collagenopathies

Tyrosinaemia type I

UCDs

Urea cycle disorders

Urofacial syndrome

Urothelial Cancer

Urothelial cancer – fusion gene analysis

Urothelial cancer – microsatellite instability (MSI)

Urothelial cancer – sequencing

Urothelial cancer – targeted analysis

USH

Usher syndrome

Ventrilia Cardiovascular Test

Ventrilia: Aortopathy

Ventrilia: Arrhythmia

Ventrilia: Cardiomyopathy

Ventrilia: Comprehensive

Ventrilia: Congenital Heart Defects

Ventrilia: Familial Hypercholesterolemia

Ventrilia: Pulmonary Hypertension

Ventrilia: Rasopathies

VERACITY: Non-Invasive Prenatal Tests

VERAgene: NIPT & Single Gene Disorders Screening

VEXAS syndrome

VHL

von Hippel-Lindau syndrome

von Willebrand disease

von-Willebrand-Jürgens syndrome, VWD, von Willebrand factor, vWF

Waardenburg syndrome

Wagner syndrome type 1

Weaver syndrome

Weill-Marchesani syndrome

WFS

Whole exome sequencing (WES)

Whole Exome Sequencing: Postnatal

Whole Exome Sequencing: Postnatal & Mitochondrial

Whole Exome Sequencing: Prenatal

Whole Genome Sequencing: Decode & Discover

Wilson disease

Wiskott-Aldrich syndrome (WAS)

WMS, spherophakia brachymorphia syndrome

Wolfram syndrome

X-linked agammaglobulinaemia

X-linked hypophosphataemia, XLH

X-linked intellectual developmental disorder, Lubs type (MRXSL)

X-linked lymphoproliferative syndrome type 1 (XLP1)

X-linked severe combined immunodeficiency (X-SCID)

X-SCID

XLA

XLP1

Y chromosome infertility