Overview
Inheritest NGS, Comprehensive
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Screening
139 conditions tested. Click Indication tab for more information.
- Abetalipoproteinaemia (ABL)
- Achondrogenesis, type IB (ACG1B)
- Alport syndrome
- Andermann syndrome (ACCPN)
- Argininosuccinate lyase deficiency
- Arthrogryposis, mental retardation, and seizures (AMRS)
- Aspartylglucosaminuria (AGU)
- Ataxia with vitamin E deficiency (VED)
- Ataxia-telangiectasia syndrome (AT)
- Atelosteogenesis type 2 (AO2)
- Autosomal recessive polycystic kidney disease (PKD4) (ARPKD)
- Bardet-Biedl syndrome 1 (BBS1)
- Bardet-Biedl syndrome 10 (BBS10)
- Bardet-Biedl syndrome 2 (BBS2)
- Becker muscular dystrophy (BMD)
- Beta-D-mannosidosis (MANSB)
- Bifunctional peroxisomal enzyme deficiency (DBIF)
- Bloom syndrome (BLM)
- Carbohydrate-deficient glycoprotein syndrome type I (CDG1A)
- Carnitine acylcarnitine translocase deficiency (CACTD)
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Ceroid lipofuscinosis neuronal 1 (CLN1)
- Ceroid lipofuscinosis neuronal 2 (CLN2)
- Ceroid lipofuscinosis neuronal 5 (CLN5)
- Ceroid lipofuscinosis neuronal 8 (CLN8)
- Citrullinemia type I (CTNL1)
- Cohen syndrome (COH1)
- Combined deficiency of sialidase AND beta galactosidase (GSL)
- Congenital amegakaryocytic thrombocytopenia (CAMT)
- Congenital hyperammonemia, type I
- Cystic fibrosis (CF)
- Deficiency of N-acetylglucosamine-1-phosphotransferase
- Deficiency of acetyl-CoA acetyltransferase
- Deficiency of alpha-mannosidase (MANSA)
- Deficiency of guanidinoacetate methyltransferase (CCDS2)
- Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
- Diastrophic dysplasia (DTD)
- Dihydropyrimidine dehydrogenase deficiency
- Dilated cardiomyopathy 3B (CMD3B)
- Duchenne muscular dystrophy (DMD)
- Ehlers-Danlos syndrome, type vii, autosomal recessive (EDSDERMS) (EDS7C)
- Epidermolysis bullosa, junctional
- Ethylmalonic encephalopathy (EE)
- Familial Mediterranean fever (FMF)
- Familial dysautonomia (HSAN3)
- Familial hyperinsulinism
- Fanconi anemia, complementation group C (FANCC)
- Finnish congenital nephrotic syndrome (NPHS1)
- Fragile X syndrome (FXS)
- Fucosidosis
- GM1 gangliosidosis
- GRACILE syndrome (FLNMS)
- Galactosemia
- Galactosylceramide beta-galactosidase deficiency
- Gaucher disease
- Glucose-6-phosphate transport defect (GSD1B)
- Glutaric aciduria, type 1 (GA1) (GA 1)
- Gluthathione synthetase deficiency (GSSD)
- Glycogen storage disease IIIa (GSD IIIa)
- Glycogen storage disease IIIb
- Glycogen storage disease type 1A (GSD1A)
- Glycogen storage disease, type II (GSD2)
- Hb SS disease (SCD)
- Hereditary fructosuria
- Holocarboxylase synthetase deficiency
- Homocystinuria due to CBS deficiency
- Hypophosphatasia
- Joubert syndrome 2 (JBTS2)
- Juvenile neuronal ceroid lipofuscinosis (CLN3)
- Leigh syndrome (LS)
- Leigh syndrome, French Canadian type (LSFC)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease type 1A (MSUD1A)
- Maple syrup urine disease type 1B (MSUD1B)
- Maple syrup urine disease, type 3 (MSUD3)
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD) (MCAD)
- Metachromatic leukodystrophy (MLD)
- Metaphyseal chondrodysplasia, McKusick type (CHH)
- Methylmalonic acidemia (MMA)
- Methylmalonic acidemia with homocystinuria (MAHCC)
- Methylmalonic aciduria cblA type
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Microcephaly, normal intelligence and immunodeficiency (NBS)
- Mucolipidosis type IV (ML4)
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type VI (MPS6)
- Mucopolysaccharidosis type VII (MPS7)
- Mucopolysaccharidosis, MPS-II (MPS2)
- Mucopolysaccharidosis, MPS-III-A (MPS3A)
- Mucopolysaccharidosis, MPS-III-B (MPS3B)
- Mucopolysaccharidosis, MPS-III-C (MPS3C)
- Mucopolysaccharidosis, MPS-III-D (MPS3D)
- Mucopolysaccharidosis, MPS-IV-A (MPS4A)
- Mucopolysaccharidosis, MPS-IV-B (MPS4B)
- Multiple epiphyseal dysplasia 4 (EDM4)
- Multiple sulfatase deficiency (MSD)
- Nemaline myopathy
- Nephropathic cystinosis (CTNS)
- Nephrotic syndrome, idiopathic, steroid-resistant (NPHS2)
- Niemann-Pick disease type C1 (NPC1)
- Niemann-Pick disease type C2 (NPC2)
- Niemann-Pick disease, type A
- Niemann-Pick disease, type B
- Non-ketotic hyperglycinemia (GCE)
- Ornithine carbamoyltransferase deficiency (OTCD)
- Peroxisome biogenesis disorder 1A (Zellweger) (ZS), lab preferred: Zellweger syndrome
- Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS)
- Phenylketonuria (PKU)
- Phosphoglycerate dehydrogenase deficiency (PHGDHD)
- Primary hyperoxaluria, type I (HP1)
- Primary hyperoxaluria, type II (HP2)
- Propionyl-CoA carboxylase deficiency (PROP)
- Pseudo-Hurler polydystrophy (ML3)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
- Renal carnitine transport defect (CDSP)
- Retinitis pigmentosa 59 (RP59)
- Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
- Salla disease (SD)
- Sandhoff disease
- Severe combined immunodeficiency due to ADA deficiency
- Sialidosis type I
- Sialidosis, type II
- Sjögren-Larsson syndrome (SLS)
- Smith-Lemli-Opitz syndrome (SLOS)
- Spastic ataxia Charlevoix-Saguenay type (SACS)
- Spongy degeneration of central nervous system
- Tay-Sachs disease (TSD)
- Tyrosinemia type I (TYRSN1)
- Usher syndrome, type 1F (USH1F)
- Usher syndrome, type 3A (USH3A)
- Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Walker-Warburg congenital muscular dystrophy
- Wilson disease (WD)
- X-linked severe combined immunodeficiency (SCIDX1)
- Xeroderma pigmentosum, group C (XPC)
- Xeroderma pigmentosum, group G (XPG)
- Xeroderma pigmentosum, type 1 (XPA)
- alpha Thalassemia
- beta Thalassemia (BTHAL)
- Molecular Genetics
- TTargeted variant analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
143 genes and variants. Click Methodology tab for more information.
Genes
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