SCIENTIFIC BACKGROUND

ABCD1, ACAD9, ACADM, ACOX1, ACSF3, ADAMTS2, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARSA, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7B, BBS1, BBS12, BCKDHB, BCS1L, BLM, BSND, BTD, CAPN3, CBS, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL4A3, COL4A5, COL7A1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBB, CYP11B2, CYP19A1, CYP27A1, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ESCO2, ETFA, ETHE1, EYS, F11, F5, F9, FAH, FAM161A, FANCC, FANCG, FMR1, G6PC, GAA, GALC, GALK1, GALT, GBA, GBE1, GCDH, GFM1, GJB2, GJB6, GLA, GLDC, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HJV, HGSNAT, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HYAL1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LDLR, LHCGR, LHX3, LIFR, LIPA, LOXHD1, LPL, LRPPRC, MCCC1, MCCC2, MCOLN1, MEFV, MFSD8, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTM1, MTRR, MTTP, MMUT, NAGLU, NAGS, NBN, NDUFAF5, NDUFS6, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OPA3, OTC, PAH, PCDH15, PDHA1, PDHB, PEX1, PEX10, PEX2, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, PPT1, PROP1, PSAP, PTS, PUS1, PYGM, RAB23, RAG2, RAPSN, RARS2, RLBP1, RMRP, RPGR, RS1, SACS, SAMHD1, SEPSECS, SGCA, SGCB, SGCG, SLC12A6, SLC17A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMN2, SMPD1, STAR, SUMF1, TFR2, TGM1, TH, TMEM216, TPP1, TRMU, TSFM, TTPA, TYMP, UGT1A1, USH1C, USH2A, VPS13A, VPS45, VPS53, VRK1, VSX2, WNT10A

Category:

Background

Adventia Carrier Screening Comprehensive Panel tests for 231 genes associated with genetic diseases that have moderate to severe, well-defined phenotype and high cumulative frequency.

All disorders tested in the Adventia Focus and Core panels are included in the Adventia Comprehensive panel.

 

What diseases are associated with the genes tested in this panel?

Unless otherwise stated, testing for the disorders below is performed via Target Capture Enrichment Technology utilizing Next Generation Sequencing.

 

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency 1
3-Methylcrotonyl-CoA Carboxylase Deficiency 2
3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome]
3-Phosphoglycerate Dehydrogenase Deficiency
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Abetalipoproteinemia
Achondrogenesis, Type 1B
Achromatopsia (CNGB3-related)
Acute Infantile Liver Failure (TRMU-related)
Acyl-CoA Oxidase I Deficiency
Adrenoleukodystrophy (X-Linked)
Aicardi-Goutières Syndrome
Alpha Thalassemia
Alport Syndrome (COL4A3-related)
Alport Syndrome (X-Linked)
Alstrom Syndrome
Andermann Syndrome
Argininosuccinate Lyase Deficiency
Aromatase Deficiency
Arthrogryposis Mental Retardation Seizures
Asparagine Synthetase Deficiency
Aspartylglycosaminuria,
Ataxia with Vitamin E Deficiency
Ataxia-Telangiectasia
Autoimmune Polyglandular Syndrome, Type 1
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay
Bardet-Biedl Syndrome (BBS1-related)
Bardet Biedl syndrome (BBS12-related)
Bare Lymphocyte Syndrome (CIITA-related)
Bartter Syndrome (BSND-related)
Batten Disease (CLN3-related)
Becker Muscular Dystrophy (X-Linked)
Beta Thalassemia
Biotinidase Deficiency
Bloom Syndrome
Canavan Disease
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Carpenter Syndrome
Cartilage-Hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choreacanthocytosis
Choroideremia (X-Linked)
Chronic Granulomatous Disease (X-Linked)
Citrin Deficiency
Citrullinemia, Type 1
Combined Malonic and Methylmalonic Acidemia
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 3

Combined Pituitary Hormone Deficiency 2
Congenital Disorder of Glycosylation, Type 1A (PMM2- related)
Congenital Disorder of Glycosylation, Type 1B
Congenital Disorder of Glycosylation Type 1C
Congenital Finnish Nephrosis
Congenital Insensitivity to Pain with Anhidrosis
Congenital Myasthenic Syndrome (CHRNE-related)
Congenital Myasthenic Syndrome (RAPSN-related)
Congenital Neutropenia (HAX1-related)
Congenital Neutropenia (VPS45-related)
Corneal Dystrophy and Perceptive Deafness1
Corticosterone Methyloxidase Deficiency
CRB1-related Retinal Dystrophies
Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] (X-Linked)
Crigler Najjar syndrome, Type I
Cystic Fibrosis
Cystinosis
D-Bifunctional Protein Deficiency
Deafness, Autosomal Recessive 77
Duchenne Muscular Dystrophy (X-Linked)
Dystrophic Epidermolysis Bullosa (COL7A1-related)
Ehlers-Danlos Syndrome, Type VIIC
Emery-Dreifuss Muscular Dystrophy 1 (X-Linked)
Enhanced S-Cone Syndrome
Ethylmalonic Encephalopathy
Fabry Disease (X-Linked)
Factor IX Deficiency (X-Linked)
Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia, ELP1
Familial Hypercholesterolemia (LDLR-related)
Familial Mediterranean Fever
Familial Nephrogenic Diabetes Insipidus (AQP2- related)
Fanconi Anemia, Type G
Fanconi Anemia, Type C
Fragile X Syndrome (X-Linked) (Testing is performed via Fragment analysis)

Galactokinase Deficiency [Galactosemia, Type II]
Galactosemia
Gaucher Disease
Glutaric Acidemia, Type 1
Glutaric Acidemia, Type 2A
Glycine Encephalopathy (GLDC-related)
Glycine Encephalopathy (AMT-related)
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B
Glycogen Storage Disease, Type 2 [Pompe Disease]
Glycogen Storage Disease
Glycogen Storage Disease, Type 4
Glycogen Storage Disease, Type 5 [McArdle Disease]
Glycogen Storage Disease, Type 7
GRACILE Syndrome
Hemochromatosis, Type 2A
Hemochromatosis, Type 3 (TFR2-related)
Hereditary Fructose Intolerance
Hermansky-Pudlak Syndrome (HPS1-related)
Hermansky-Pudlak Syndrome (HPS3-related)
Holocarboxylase Synthetase Deficiency
Homocystinuria Due to Cystathionine Beta-synthase Deficiency
Homocystinuria-Megaloblastic Anemia, cblE Type
Hydrolethalus Syndrome
Hypohidrotic Ectodermal Dysplasia (X-Linked)
Hypophosphatasia (ALPL-related)
Inclusion Body Myopathy Type 2
Isovaleric Acidemia
Joubert Syndrome, Type 2
Junctional Epidermolysis Bullosa, Herlitz type
Juvenile Retinoschisis (X-Linked)
Krabbe Disease
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis
Leber Congenital Amaurosis
Leigh Syndrome, French-Canadian Type

Leukoencephalopathy with Vanishing White Matter
Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]
Limb-Girdle Muscular Dystrophy, Type 2A
Limb-Girdle Muscular Dystrophy, Type 2B
Limb-Girdle Muscular Dystrophy, Type 2C
Limb-Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2E
Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]
Lipoid Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Lysinuric Protein Intolerance
Maple Syrup Urine Disease, Type 1B
Meckel-Gruber Syndrome, Type 1
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy (ARSA-related)
Metachromatic Leukodystrophy (PSAP-related)
Methylmalonic Acidemia, cbIA Type
Methylmalonic Acidemia, cbIB Type
Methylmalonic Acidemia and Homocystinuria, cblC Type
Methylmalonic Acidemia and Homocystinuria, cblD Type
Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency
Microphthalmia/Anophthalmia (VSX2-related)
Mitochondrial Complex 1 Deficiency (ACAD9-related)
Mitochondrial Complex 1 Deficiency (NDUFAF5- related)
Mitochondrial Complex 1 Deficiency (NDUFS6-related)
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
Mucolipidosis II/III
Mucolipidosis III Gamma
Mucolipidosis, Type IV
Mucopolysaccharidosis, Type II [Hunter Syndrome] (X-Linked)
Mucopolysaccharidosis, Type IIIB [Sanfilippo B]
Mucopolysaccharidosis, Type IIIC [Sanfilippo C]
Mucopolysaccharidosis IIID [Sanfilippo D]
Mucopolysaccharidosis, Type IX
Multiple Sulfatase Deficiency
Myoneurogastrointestinal Encephalopathy (MNGIE)
Myotubular Myopathy (X-Linked)
N-acetylglutamate Synthase Deficiency
Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]
Neurological Ceroid Lipofuscinosis (TPP1-related)
Neuronal Ceroid Lipofuscinosis (MFSD8-related)
Neuronal Ceroid Lipofuscinosis (CLN5-related)
Neuronal Ceroid Lipofuscinosis (CLN6-related)
Neuronal Ceroid Lipofuscinosis (CLN8-related)
Neuronal Ceroid Lipofuscinosis (PPT1-related)
Niemann-Pick Disease, Types A/B
Niemann-Pick Disease, Type C1/D
Niemann-Pick Disease, Type C2
Nijmegen Breakage Syndrome
Non-Syndromic Hearing Loss (GJB2-related, GJB6-related)
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz- Passarge Syndrome
Omenn Syndrome, RAG2-related

Ornithine Aminotransferase Deficiency
Ornithine Transcarbamylase Deficiency
Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome]
Pendred Syndrome
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)
Phenylalanine Hydroxylase Deficiency
Pituitary Hormone Deficiency, Combined 3
Pontocerebellar Hypoplasia, RARS2-related
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 2D
Pontocerebellar Hypoplasia, Type 2E
Primary Ciliary Dyskinesia (DNAH5-related)
Primary Ciliary Dyskinesia, DNAI1-related
Primary Ciliary Dyskinesia, DNAI2-related
Primary Hyperoxaluria, Type 1
Primary Hyperoxaluria, Type 2
Primary Hyperoxaluria, Type 3
Pycnodysostosis
Pyruvate Dehydrogenase Deficiency (PDHB-related)
Pyruvate Dehydrogenase Deficiency (X-Linked)
Renal Tubular Acidosis and Deafness (ATP6V1B1- related)
Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]
Retinitis Pigmentosa 59 (DHDDS-related)
Retinitis Pigmentosa 25 (EYS-related)
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis Pigmentosa (X-Linked)
Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7
Rhizomelic Chondrodysplasia Punctata, Type 3
Roberts Syndrome
Salla Disease
Sandhoff Disease
Schimke Immunoosseous Dysplasia
Segawa Syndrome
Severe Combined Immunodeficiency Type Athabaskan
Severe Combined Immunodeficiency (X-Linked)
Sickle-Cell Disease
Sjögren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy (Testing is performed via MLPA)
Steroid-Resistant Nephrotic Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease
Tyrosinemia, Type 1
Usher Syndrome, Type 1C
Usher Syndrome, Type 1F
Usher Syndrome, Type 2A
Usher Syndrome, Type 3
Wilson Disease
Wolman Disease
Zellweger Spectrum Disorders, (PEX6-related)
Zellweger Spectrum Disorders (PEX10-related)

 

More information on the detection rates for the disorders tested above can be found on the Adventia Carrier Screening page. 

GENES

ABCD1, ACAD9, ACADM, ACOX1, ACSF3, ADAMTS2, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARSA, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7B, BBS1, BBS12, BCKDHB, BCS1L, BLM, BSND, BTD, CAPN3, CBS, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL4A3, COL4A5, COL7A1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBB, CYP11B2, CYP19A1, CYP27A1, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ESCO2, ETFA, ETHE1, EYS, F11, F5, F9, FAH, FAM161A, FANCC, FANCG, FMR1, G6PC, GAA, GALC, GALK1, GALT, GBA, GBE1, GCDH, GFM1, GJB2, GJB6, GLA, GLDC, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HJV, HGSNAT, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HYAL1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LDLR, LHCGR, LHX3, LIFR, LIPA, LOXHD1, LPL, LRPPRC, MCCC1, MCCC2, MCOLN1, MEFV, MFSD8, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTM1, MTRR, MTTP, MMUT, NAGLU, NAGS, NBN, NDUFAF5, NDUFS6, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OPA3, OTC, PAH, PCDH15, PDHA1, PDHB, PEX1, PEX10, PEX2, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, PPT1, PROP1, PSAP, PTS, PUS1, PYGM, RAB23, RAG2, RAPSN, RARS2, RLBP1, RMRP, RPGR, RS1, SACS, SAMHD1, SEPSECS, SGCA, SGCB, SGCG, SLC12A6, SLC17A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMN2, SMPD1, STAR, SUMF1, TFR2, TGM1, TH, TMEM216, TPP1, TRMU, TSFM, TTPA, TYMP, UGT1A1, USH1C, USH2A, VPS13A, VPS45, VPS53, VRK1, VSX2, WNT10A
How to order

LATEST ARTICLES

Traditional DNA tests may overlook 10% of classic in Familial Adenomatous Polyposis (FAP) cases. By integrating RNA sequencing, researchers unveiled ...

Read more

Overview In January 2024, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published new recommendation...

Read more

Endometriosis is a chronic gynecological condition that affects 1 in 10 women of reproductive age worldwide [1]. It can manifest with the first menst...

Read more

Rare Disease Day is a global awareness day held annually to raise awareness of all rare diseases. It was first celebrated in 2008, on the rarest day ...

Read more

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more