Genomic Inform™ Test Carrier screening gene list
Genomic Inform™ provides comprehensive testing of more than 300 autosomal recessive and X-linked conditions, including all American College of Medical Genetics and Genomics (ACMG), American College of Obstetricians and Gynecologists (ACOG) and Jewish Genetic Disease Consortium recommended disorders.
Autosomal recessive
DISORDER GENE DISORDER GENE 11-beta-hydroxylase-deficient congenital CYP11B1 Amish infantile epilepsy syndrome ST3GAL5 adrenal hyperplasia Andermann syndrome SLC12A6 17-alpha-hydroxylase-deficient congenital CYP17A1 Arginase deficiency ARG1 adrenal hyperplasia Argininosuccinic aciduria ASL 17-beta-hydroxysteroid dehydrogenase HSD17B3 deficiency, type III Aromatase deficiency CYP19A1 2-Methylbutyryl-CoA dehydrogenase ACADSB Arthrogryposis, mental retardation, and SLC35A3 deficiency seizures§ 3-beta-hydroxysteroid dehydrogenase HSD3B2 Asparagine synthetase deficiency§ ASNS type II deficiency (Congenital adrenal hyperplasia) Aspartylglucosaminuria AGA 3-hydroxy-3-methylglutarayl-CoA (HMG- HMGCL Ataxia with vitamin E deficiency TTPA CoA) lyase deficiency Ataxia-telangiectasia§ ATM 3-hydroxyacyl-CoA dehydrogenase HADH Ataxia-telangiectasia-like disorder 1 MRE11A deficiency Atypical Gaucher disease PSAP 3-methylcrotonyl-CoA carboxylase MCC1, MCC2 deficiency Atypical Krabbe disease PSAP 3-methylglutaconic aciduria OPA3 Autoimmune polyendocrinopathy with AIRE type III (Costeff optic atrophy)§ candidiasis and ectodermal dysplasia§ 6-pyruvoyl-tetrahydropterin synthase PTS Autosomal recessive deafness 77§ LOXHD1 deficiency Autosomal recessive spastic ataxia of SACS Abetalipoproteinemia§ MTTP Charlevoix-Saguenay (ARSACS) ACAD9 deficiency ACAD9 Bardet-Biedl syndrome§ ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, Achalasia-addisonianism-alacrima AAAS TTC8 syndrome Bare lymphocyte syndrome type II CIITA Achromatopsia ATF6, CNGA3, CNGB3, GNAT2, PDE6C Bartter syndrome type I SLC12A1 Acrodermatitis enteropathica SLC39A4 Bartter syndrome type II KCNJ1 Acute infantile liver failure§ TRMU Bartter syndrome type III CLCNKB Adenosine deaminase 2 deficiency ADA2 Bartter syndrome type IV BSND, CLCNKA, CLCNKB Adenosine deaminase deficiency ADA BCS1L-related disorders (Mitochondrial BCS1L Adult polyglucosan body disease GBE1 complex IIIdeficiency, Bjornstad syndrome, Aicardi-Goutieres syndrome ADAR, RNASEH2A, RNASEH2B, Leigh syndrome) RNASEH2C, SAMHD1, TREX1 Bernard-Soulier syndrome type A1 GP1BA Alexander disease GFAP Bernard-Soulier syndrome type B1 GP1BB Alkaptonuria HGD Bernard-Soulier syndrome type C GP9 Alpha-1 antitrypsin deficiency SERPINA1 Beta-globin-related hemoglobinopathies†‡§ HBB Alpha-mannosidosis MAN2B1 (Beta-thalassemia, Sickle cell disease) Alpha-thalassemia†‡§ HBA1/HBA2 Beta-ketothiolase deficiency ACAT1 Alport Syndrome§ COL4A3, COL4A4 Beta-mannosidosis MANBA Alström syndrome ALMS1 Bilateral frontoparietal polymicrogyria ADGRG1 DISORDER GENE DISORDER GENE Biotinidase deficiency BTD Early onset myopathy with fatal TTN cardiomyopathy (Salih myopathy) Bloom syndrome†‡§ BLM Ehlers-Danlos syndrome§ ADAMTS2, FKBP14, PLOD1, TNXB Canavan disease†‡§ ASPA Ellis-van Creveld syndrome EVC, EVC2 Carbamoylphosphate synthetase I defi- CPS1 ciency Enhanced S-cone syndrome§ NR2E3 Carnitine palmitoyltransferase I deficiency CPT1A Epiphyseal dysplasia, multiple, 7 CANT1 Carnitine palmitoyltransferase II defi- CPT2 Ethylmalonic encephalopathy ETHE1 ciency§ Factor V deficiency F5 Carpenter syndrome RAB23 Factor XI deficiency§ F11 Cartilage-hair hypoplasia-anauxetic dys- RMRP Familial dysautonomia†‡§ IKBKAP plasia spectrum disorders Familial hypercholesterolemia§ LDLR, LDLRAP1 Cerebral creatine deficiency syndrome 1 SLC6A8 Familial hyperinsulinemic hypoglycemia HADH, KCNJ11 Cerebrotendinous xanthomatosis§ CYP27A1 Familial hyperinsulinism‡§ ABCC8, KCNJ11 Charcot-Marie-Tooth disease NDRG1 Familial mediterranean fever§ MEFV Chediak-Higashi syndrome LYST Fanconi anemia†‡§ FANCA, FANCC, FANCD2, FANCE, Chorea-acanthocytosis§ VPS13A FANCF, FANCG, FANCI, FANCL, FANCM Choroidal dystrophy, central areolar 1 GUCY2D Fetal akinesia deformation sequence DOK7 Choroideremia CHM Fumarate hydratase deficiency FH Chronic granulomatous disease§ CYBA, NCF1, NCF2 Galactokinase deficiency galactosemia GALK1 Citrin deficiency SLC25A13 Galactosemia§ GALT Citrullinemia type 1 ASS1 Gaucher disease†‡§ GBA COACH syndrome RPGRIP1L Geroderma osteodysplastica GORAB Cockayne syndrome type A ERCC8 Gilbert syndrome UGT1A1 Cockayne syndrome type B ERCC6 Gitelman syndrome SLC12A3 Cohen syndrome VPS13B Glutaric acidemia type I GCDH Combined malonic and methylmalonic ACSF3 Glutaric acidemia type II ETFA, ETFB, ETFDH aciduria Glycine encephalopathy AMT, GLDC Combined oxidative phosphorylation GFM1, TSFM deficiency Glycogen storage disease IXb PHKB Combined pituitary hormone deficiency LHX3, PROP1 Glycogen storage disease IXc PHKG2 ‡§ Congenital adrenal hyperplasia due to CYP21A2 Glycogen storage disease type Ia G6PC 21-alpha-hydroxylase deficiency Glycogen storage disease type Ib SLC37A4 Congenital amegakaryocytic MPL Glycogen storage disease type II GAA § thrombocytopenia (Pompe disease)§ § Congenital disorder of glycosylation ALG6, MPI, PMM2 Glycogen storage disease type IV§ GBE1 Congenital Finnish nephrosis NPHS1 Glycogen storage disease type V PYGM Congenital insensitivity to pain with NTRK1 Glycogen storage disease type III AGL anhidrosis§ Glycogen storage disease type VII§ PFKM Congenital myasthenic syndrome§ CHAT, CHRNE, COLQ, DOK7, GFPT1, RAPSN Glycogen storage disease VI PYGL Congenital neutropenia HAX1, VPS45 GRACILE syndrome BCS1L Corneal dystrophy and perceptive deafness SLC4A11 Guanidinoacetate methyltransferase GAMT deficiency (Cerebral creatine deficiency § Corticosterone methyloxidase deficiency CYP11B2 syndrome 2) Crigler-Najjar syndrome UGT1A1 Hemochromatosis type 1 HFE †‡§ Cystic fibrosis CFTR Hemochromatosis type 2A HFE2 Cystinosis CTNS Hemochromatosis type 3 TFR2 D-bifunctional protein deficiency HSD17B4 Hereditary fructose intolerance ALDOB Desbuquois dysplasia type I CANT1 Hermansky-Pudlak syndrome§ AP3B1, HPS1, HPS3, HPS4, HPS5, DHDDS-related disorders (including DHDDS HPS6 Congenital disorder of glycoslylation) Holocarboxylase synthetase deficiency HLCS Dihydropyrimidine dehydrogenase DPYD, DLD Homocystinuria§ CBS, MTHFR, MTRR deficiency§ Hydrolethalus syndrome type 1 HYLS1 DMD-related dystrophinopathy (Duchenne DMD / Becker muscular dystrophy, Dilated Hyperornithinemia-hyperammonemia- SLC25A15 cardiomyopathy) homocitrullinuria (HHH) syndrome Dysferlinopathy DYSF Hyperphospatemic tumoral calcinosis, GALNT3 familial Dyskeratosis congenita RTEL1, TERT Hypohidrotic ectodermal dysplasia EDA, EDAR Dystrophic epidermolysis bullosa COL7A1 DISORDER GENE DISORDER GENE Hypophosphatasia ALPL Mitochondrial myopathy and sideroblastic PUS1 anemia§ Hypoprothrombinemia F2 Mitochondrial recessive ataxia syndrome POLG Inclusion body myopathy 2§ GNE Mucolipidosis type II/III GNPTAB Infantile cerebral and cerebellar atrophy§ MED17 Mucolipidosis type IV†‡§ MCOLN1 Isovaleric acidemia IVD Mucolipidosis type III GNPTG Johanson-Blizzard syndrome UBR1 Mucopolysaccharidosis type I (includes IDUA Joubert syndrome‡§ AHI1, CEP290, CC2D2A, CPLANE1, Hurler, Hurler-Scheie, and Scheie CSPP1, INPP5E, KIAA0586, MKS1, syndromes) RPGRIP1L, TMEM67, TMEM216, TMEM231 Mucopolysaccharidosis type IX HYAL1 Junctional epidermolysis bullosa LAMA3, LAMB3, LAMC2 Mucopolysaccharidosis type VI ARSB (Maroteaux-Lamy syndrome) Krabbe disease GALC Mucopolysaccharidosis type IIIA SGSH Kufor-Rakeb syndrome ATP13A2 (Sanfilippo A syndrome) LAMA2-related muscular dystrophy LAMA2 Mucopolysaccharidosis type IIIB NAGLU Lamellar ichthyosis type 1 TGM1 Mucopolysaccharidosis type IIIC HGSNAT Leber congenital amaurosis§ CEP290, CRB1, GUCY2D, LCA5, RDH12, (Sanfilippo syndrome) RPE65 Mucopolysaccharidosis type IIID GNS Leigh syndrome, French Canadian type LRPPRC (Sanfilippo syndrome) Lethal arthrogryposis with anterior horn GLE1 Mucopolysaccharidosis type IVB (Morquio GLB1 cell disease B syndrome) / GM1 gangliosidosis Lethal congenital contracture syndrome 1 GLE1 Mulibrey nanism TRIM37 Leukoencephalopathy with vanishing EIF2B5 Multiple sulfatase deficiency§ SUMF1 white matter Muscle-Eye-Brain disease and other POMGNT1 Leydig cell hypoplasia LHCGR POMGNT1-related congenital muscular dystrophy-dystroglycanopathies Limb-girdle muscular dystrophy CAPN3, DYSF, POMT1, POMT2, SGCA, SGCB, SGCG, TTN Muscular dystrophy-dystroglycanopathy LARGE1, POMT1, POMT2 (congenital with brain and eye anomalies) Lipoid congenital adrenal hyperplasia STAR Muscular dystrophy-dystroglycanopathy LARGE1, MKKS, POMT1, POMT2 Lipoprotein lipase deficiency LPL (congenital with mental retardation) Long chain 3-hydroxyacyl-CoA HADHA Muscular dystrophy-dystroglycanopathy LHCGR dehydrogenase (LCHAD) deficiency (congenital with mental retardation) type Lysinuric protein intolerance SLC7A7 6B § Lysosomal acid lipase deficiency§ (includes LIPA Myoneurogastrointestinal encephalopathy TYMP Wolman disease and Cholesterol ester N-Acetylglutamate synthase deficiency NAGS storage disease) Nemaline myopathy 2 NEB Major histocompatibility complex class II CIITA deficiency Nephrogenic diabetes insipidus AQP2 Maple syrup urine disease‡§ BCKDHA, BCKHB, DBT Neu-Laxova syndrome PHGDH Meckel syndrome CC2D2A, MKS1, RPGRIP1L, TMEM67, Neuronal ceroid lipofuscinosis CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, TMEM216 DNAJC5, GRN. KCTD7, MFSD8, PPT1, TTP1 Medium chain acyl-CoA dehydrogenase ACADM (MCAD) deficiency Niemann-Pick disease type A/B†‡§ SMPD1 MEDNIK syndrome AP1S1 Niemann-Pick disease type C‡ NPC1, NPC2 Megalencephalic leukoencephalopathy MLC1 Nijmegen breakage syndrome NBN with subcortical cysts type 1§ Non-syndromic hearing loss§ GJB2, GJB6 Megalencephalic leukoencephalopathy HEPACAM Normophosphatemic familial tumoral SAMD9 with subcortical cysts types 2A & 2B§ calcinosis Metachromatic leukodystrophy§ ARSA Omenn syndrome§ DCLRE1C, RAG1, RAG2 Metachromatic leukodystrophy due to PSAP Ornithine aminotransferase deficiency OAT SAP-b deficiency (Gyrate atrophy)§ Methylmalonic acidemia ACSF, MMAA, MMAB, MUT Osteopetrosis§ TCIRG1 Methylmalonic acidemia with MMACHC Pendred syndrome SLC26A4 homocystinuria, cobalamin C type Peroxisomal acyl-CoA oxidase deficiency ACOX1 Methylmalonic acidemia with MMADHC homocystinuria, cobalamin D type Phenylalanine hydroxylase deficiency PAH (including Phenylketonuria (PKU))§ Microphthalmia / Clinical anophthalmia§ VSX2 Phosphoglycerate dehydrogenase PHGDH Mitochondrial complex 1 deficiency§ NDUFAF6 deficiency§ Mitochondrial complex I deficiency / Leigh ACAD9, NDUFAF5, NDUFS6 Polycystic kidney disease (PKHD1-related)§ PKHD1 syndrome Polymicrogyria ADGRG1 Mitochondrial complex IV deficiency PET100 Pontocerebellar hypoplasia§ EXOC3, RARS2, SEPSECS, TSEN2, Mitochondrial DNA depletion syndrome MPV17, POLG TSEN34, TSEN54, VRK1, VPS53 DISORDER GENE DISORDER GENE Primary carnitine deficiency SLC22A5 Very long-chain acyl-CoA dehydrogenase ACADVL deficiency Primary ciliary dyskinesia§ DNAH5, DNAI1, DNAI2 Vitamin D-dependent rickets type I CYP27B1 Primary congenital glaucoma 3A CYP1B1 Walker-Warburg syndrome§ FKRP, FKTN, IPSD Primary hyperoxaluria§ AGXT, GRHPR, HOGA1 Wilson disease§ ATP7B Progressive cerebello-cerebral atrophy§ SEPSECS WNT10A-related disorders (including WNT10A Progressive external ophthalmoplegia POLG Odonto-onycho-dermal dysplasia and with mitochondrial deletions autosomal Schopf-Schulz-Passarge syndrome) recessive type 1 Woolly hair / Hypotrichosis LIPH Progressive familial intrahepatic ABCB11 cholestasis type 2 Xeroderma pigmentosum ERCC2, XPA, XPC Prolidase deficiency PEPD Zellweger spectrum disorder§ PEX1, PEX2, PEX3, PEX6, PEX10, PEX12, PEX14, PEX16, PEX26 Propionic acidemia PCCA, PCCB Pseudocholinesterase deficiency BCHE X-linked Pseudoxanthoma elasticum ABCC6, GGCX Pycnodysostosis CTSK DISORDER GENE Pyridoxine-dependent epilepsy ALDH7A1 Alpha-thalassemia X-linked intellectual ATRX Pyruvate carboxylase deficiency PC disability syndrome Pyruvate dehydrogenase deficiency DLAT, PDHB Alport Syndrome§ COL4A5
Refsum disease PEX7 Androgen insensitivity syndrome AR § Renal tubular acidosis with deafness ATP6V1B1 Arts syndrome PRPS1 § Retinitis pigmentosa CERKL, DHDDS, EYS, FAM161A, Charcot-Marie-Tooth disease GJB1, PRPS1 HGSNAT, NR2E3, TTC8 Chronic granulomatous disease CYBB Rhizomelic chondrodysplasia punctata AGPS, GNPAT, PEX7 Dyskeratosis congenita DKC1 Roberts syndrome ESCO2 Emery-Dreifuss muscular dystrophy EMD Salla disease SLC17A5 Fabry disease GLA Sandhoff disease HEXB Factor IX deficiency (Hemophilia B) F9 Schimke immuno-osseous dysplasia SMARCAL1 Factor VIII deficiency (Hemophelia A) F8 Severe combined immunodeficiency DCLRE1C, RAG1 Fragile X syndrome†‡§ FMR1 Short chain Acyl-CoA dehydrogenase ACADS deficiency Glucose-6-phosphate dehydrogenase G6PD deficiency Shwachman-Diamond syndrome SBDS Glycogen storage disease IXa PHKA2 Sialic acid storage disorders SLC17A5 Hemolytic anemia due to G6PD deficiency G6PD Sjögren-Larsson syndrome ALDH3A2 HPRT-related gout HPRT1 SLC26A2-related disorders (including SLC26A2 Diatrophic dysplasia, Atelosteogenesis type L1 syndrome / MASA syndrome / CRASH L1CAM 2, Achondrogenesis type 1B) syndrome Smith-Lemli-Opitz syndrome§ DHCR7 Lesch-Nyhan syndrome HPRT1 Spastic paraplegia§ ATP13A2, TECPR2, ZFYVE26 Menkes disease / ATP7A-related disorders ATP7A
†‡§ (including Occipital horn syndrome and Spinal muscular atrophy SMN1 Distal hereditary motor neuropathy) Spinocerebellar ataxia type 7 TPP1 Mucopolysaccharidosis type II (Hunter IDS Spondylocostal dysostosis DLL3, LFNG syndrome) Spondylothoracic dysostosis DLL3, LFNG, MESP2 Myotubular myopathy 1 MTM1 Steel syndrome COL27A1 Ornithine transcarbamylase deficiency OTC Steroid-resistant nephrotic syndrome NPHS2 Pyruvate dehydrogenase deficiency PDHA1 Stüve-Wiedemann syndrome LIFR X-lined Fanconi anemia FANCB Tay-Sachs disease (Hexosaminidase A HEXA X-linked adrenoleukodystrophy§ ABCD1 †‡§ deficiency) X-linked ichthyosis STS Tyrosine hydroxylase deficiency (Segawa TH X-linked juvenile retinoschisis RS1 syndrome)
§ X-linked severe combined IL2RG Tyrosinemia type I FAH immunodeficiency (X-SCID) Tyrosinemia type II TAT Tyrosinemia type III HPD † Recommended by American College of Medical Genetics and Genomics (ACMG) ‡ Recommended by American College of Obstetricians and Gynecologists (ACOG) ‡§ Usher syndrome ADGRV1, CDH23, CLRN1, MYO7A, § Recommended by Jewish Genetic Disease Consortium PCDH15, USH1C, USH1G, USH2A, WHRN
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