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Visit help center| Disorder | Gene |
|---|---|
|
11-beta-hydroxylase-deficient congenital adrenal hyperplasia |
CYP11B1 |
|
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia |
CYP17A1 |
|
3-beta-hydroxysteroid dehydrogenase type II deficiency (Congenital adrenal hyperplasia) |
HSD3B2 |
|
3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency |
HMGCL |
|
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related) |
MCCC1 |
|
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related) |
MCCC2 |
|
3-methylglutaconic aciduria type III (Costeff optic atrophy) |
OPA3 |
|
ACAD9 deficiency |
ACAD9 |
|
Abetalipoproteinemia |
MTTP |
|
Achromatopsia (CNGB3-related) |
CNGB3 |
|
Acrodermatitis enteropathica |
SLC39A4 |
|
Adenosine deaminase deficiency |
ADA |
|
Aicardi-Goutieres syndrome (SAMHD1-related) |
SAMHD1 |
|
Aldosterone synthase deficiency |
CYP11B2 |
|
Alkaptonuria |
HGD |
|
Alpha-1 antitrypsin deficiency |
SERPINA1 |
|
Alpha-mannosidosis |
MAN2B1 |
|
Alpha-thalassemia |
HBA1, HBA2 |
|
Alpha-thalassemia X-linked intellectual disability syndrome |
ATRX |
|
Alport Syndrome (COL4A3-related) |
COL4A3 |
|
Alport Syndrome (COL4A4-related) |
COL4A4 |
|
Alport Syndrome, X-linked (COL4A5-related) |
COL4A5 |
|
Alström syndrome |
ALMS1 |
|
Andermann syndrome |
SLC12A6 |
|
Arginase deficiency |
ARG1 |
|
Argininosuccinic aciduria |
ASL |
|
Aromatase deficiency |
CYP19A1 |
|
Asparagine synthetase deficiency |
ASNS |
|
Aspartylglucosaminuria |
AGA |
|
Ataxia with vitamin E deficiency |
TTPA |
|
Ataxia-telangiectasia |
ATM |
|
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia |
AIRE |
|
Autosomal recessive deafness 77 (DFNB77) |
LOXHD1 |
|
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
SACS |
|
Bardet-Biedl syndrome (BBS1-related) |
BBS1 |
|
Bardet-Biedl syndrome (BBS10-related) |
BBS10 |
|
Bardet-Biedl syndrome (BBS12-related) |
BBS12 |
|
Bardet-Biedl syndrome (BBS2-related) |
BBS2 |
|
Bartter syndrome type IV |
BSND |
|
Bernard-Soulier syndrome (GP1BA-related) |
GP1BA |
|
Bernard-Soulier syndrome (GP9-related) |
GP9 |
|
Beta-ketothiolase deficiency |
ACAT1 |
|
Biotinidase deficiency |
BTD |
|
Bloom syndrome |
BLM |
|
Canavan disease |
ASPA |
|
Carbamoylphosphate synthetase I deficiency |
CPS1 |
|
Carnitine palmitoyltransferase I deficiency |
CPT1A |
|
Carnitine palmitoyltransferase II deficiency |
CPT2 |
|
Carpenter Syndrome |
RAB23 |
|
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders |
RMRP |
|
Cerebrotendinous xanthomatosis |
CYP27A1 |
|
Charcot-Marie-Tooth disease (NDRG1-related) |
NDRG1 |
|
Charcot-Marie-Tooth disease, X-linked (GJB1-related) |
GJB1 |
|
Chorea-acanthocytosis |
VPS13A |
|
Choroideremia |
CHM |
|
Chronic granulomatous disease (CYBA-related) |
CYBA |
|
Chronic granulomatous disease (CYBB-related) |
CYBB |
|
Citrin deficiency |
SLC25A13 |
|
Citrullinemia type 1 |
ASS1 |
|
Cockayne syndrome type A |
ERCC8 |
|
Cockayne syndrome type B |
ERCC6 |
|
Cohen syndrome |
VPS13B |
|
Combined SAP Deficiency |
PSAP |
|
Combined malonic and methylmalonic aciduria (ACSF3-related) |
ACSF3 |
|
Combined oxidative phosphorylation deficiency (GFM1-related) |
GFM1 |
|
Combined oxidative phosphorylation deficiency (TSFM-related) |
TSFM |
|
Combined pituitary hormone deficiency (LHX3-related) |
LHX3 |
|
Combined pituitary hormone deficiency (PROP1-related) |
PROP1 |
|
Congenital amegakaryocytic thrombocytopenia |
MPL |
|
Congenital disorder of glycosylation (ALG6-related) |
ALG6 |
|
Congenital disorder of glycosylation (MPI-related) |
MPI |
|
Congenital disorders of glycosylation (PMM2-related) |
PMM2 |
|
Congenital ichthyosis (TGM1-related) |
TGM1 |
|
Congenital insensitivity to pain with anhidrosis |
NTRK1 |
|
Congenital myasthenic syndrome (CHRNE-related) |
CHRNE |
|
Congenital myasthenic syndrome (RAPSN-related) |
RAPSN |
|
Congenital neutropenia (HAX1-related) |
HAX1 |
|
Corneal dystrophy and perceptive deafness |
SLC4A11 |
|
Cystic fibrosis/ CFTR-related disorders |
CFTR |
|
Cystinosis |
CTNS |
|
D-bifunctional protein deficiency |
HSD17B4 |
|
DHDDS-related disorders (including Congenital disorder of glycoslylation/ Retinitis pigmentosa 59) |
DHDDS |
|
DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and Dilated cardiomyopathy) |
DMD |
|
Dihydrolipoamide dehydrogenase deficiency (DLD) |
DLD |
|
Dysferlinopathy (including Limb-girdle muscular dystrophy type 2B) |
DYSF |
|
Dystrophic epidermolysis bullosa (COL7A1-related) |
COL7A1 |
|
Ehlers-Danlos syndrome type VIIC |
ADAMTS2 |
|
Ellis-van Creveld syndrome (EVC-related) |
EVC |
|
Ellis-van Creveld syndrome (EVC2-related) |
EVC2 |
|
Emery-Dreifuss muscular dystrophy (EMD-related) |
EMD |
|
Enhanced S-cone syndrome/ Retinitis pigmentosa 37 |
NR2E3 |
|
Ethylmalonic encephalopathy |
ETHE1 |
|
Fabry disease |
GLA |
|
Factor IX deficiency (Hemophilia B) |
F9 |
|
Factor V Leiden thrombophilia |
F5 |
|
Factor XI deficiency (Hemophilia C) |
F11 |
|
Familial dysautonomia |
ELP1 |
|
Familial hypercholesterolemia (LDLR-related) |
LDLR |
|
Familial hypercholesterolemia (LDLRAP1-related) |
LDLRAP1 |
|
Familial hyperinsulinism (ABCC8-related) |
ABCC8 |
|
Familial hyperinsulinism (KCNJ11-related) |
KCNJ11 |
|
Familial mediterranean fever |
MEFV |
|
Fanconi anemia type A |
FANCA |
|
Fanconi anemia type C |
FANCC |
|
Fanconi anemia type G |
FANCG |
|
Fragile X syndrome |
FMR1 |
|
Fumarate hydratase deficiency |
FH |
|
GJB2-related DFNB1 nonsyndromic hearing loss and deafness |
GJB2 |
|
GRACILE syndrome/ BCS1L-related disorders (including Mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome) |
BCS1L |
|
Galactokinase deficiency galactosemia |
GALK1 |
|
Galactosemia |
GALT |
|
Gaucher disease |
GBA |
|
Gitelman syndrome |
SLC12A3 |
|
Glucose-6-phosphate dehydrogenase (G6PD) deficiency |
G6PD |
|
Glutaric acidemia type I |
GCDH |
|
Glutaric acidemia type II (ETFA-related) |
ETFA |
|
Glutaric acidemia type II (ETFDH-related) |
ETFDH |
|
Glycine encephalopathy (AMT-related) |
AMT |
|
Glycine encephalopathy (GLDC-related) |
GLDC |
|
Glycogen storage disease type II (Pompe disease) |
GAA |
|
Glycogen storage disease type III |
AGL |
|
Glycogen storage disease type IV/ Adult polyglucosan body disease |
GBE1 |
|
Glycogen storage disease type Ia |
G6PC |
|
Glycogen storage disease type Ib |
SLC37A4 |
|
Glycogen storage disease type V |
PYGM |
|
Glycogen storage disease type VII |
PFKM |
|
Guanidinoacetate methyltransferase deficiency |
GAMT |
|
HBB-related hemoglobinopathies (including Beta-thalassemia and Sickle cell disease) |
HBB |
|
Hereditary fructose intolerance |
ALDOB |
|
Hereditary hemochromatosis (HFE-related) |
HFE |
|
Hereditary hemochromatosis (HJV-related) |
HJV |
|
Hereditary hemochromatosis (TFR2-related) |
TFR2 |
|
Hermansky-Pudlak syndrome (HPS1-related) |
HPS1 |
|
Hermansky-Pudlak syndrome (HPS3-related) |
HPS3 |
|
Holocarboxylase synthetase deficiency |
HLCS |
|
Homocystinuria (CBS-related) |
CBS |
|
Homocystinuria due to MTHFR deficiency |
MTHFR |
|
Homocystinuria, cobalamin E type |
MTRR |
|
Hydrolethalus syndrome type 1 |
HYLS1 |
|
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome |
SLC25A15 |
|
Hypohidrotic ectodermal dysplasia (EDA-related) |
EDA |
|
Hypophosphatasia |
ALPL |
|
Inclusion body myopathy 2 |
GNE |
|
Isovaleric acidemia |
IVD |
|
Joubert syndrome 2/ TMEM216-related disorders |
TMEM216 |
|
Junctional epidermolysis bullosa (LAMA3-related) |
LAMA3 |
|
Junctional epidermolysis bullosa (LAMB3-related) |
LAMB3 |
|
Junctional epidermolysis bullosa (LAMC2-related) |
LAMC2 |
|
Krabbe disease |
GALC |
|
LAMA2-related muscular dystrophy |
LAMA2 |
| Disorder | Gene |
|---|---|
|
Leber congenital amaurosis 10/ CEP290-related disorders |
CEP290 |
|
Leber congenital amaurosis 13 |
RDH12 |
|
Leber congenital amaurosis 2 |
RPE65 |
|
Leber congenital amaurosis 5 |
LCA5 |
|
Leber congenital amaurosis 8/ CRB1-related disorders |
CRB1 |
|
Leigh syndrome, French Canadian type |
LRPPRC |
|
Lethal congenital contracture syndrome 1 / Lethal arthrogryposis with anterior horn cell disease |
GLE1 |
|
Leukoencephalopathy with vanishing white matter (EIF2B5-related) |
EIF2B5 |
|
Limb-girdle muscular dystrophy type 2A/Calpainopathy |
CAPN3 |
|
Limb-girdle muscular dystrophy type 2C |
SGCG |
|
Limb-girdle muscular dystrophy type 2D |
SGCA |
|
Limb-girdle muscular dystrophy type 2E |
SGCB |
|
Lipoid congenital adrenal hyperplasia |
STAR |
|
Lipoprotein lipase deficiency |
LPL |
|
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency |
HADHA |
|
Lysinuric protein intolerance |
SLC7A7 |
|
Lysosomal acid lipase deficiency (includes Wolman disease and Cholesterol ester storage disease) |
LIPA |
|
MKS1-related disorders |
MKS1 |
|
Major histocompatibility complex class II deficiency |
CIITA |
|
Maple syrup urine disease (MSUD) type 1A |
BCKDHA |
|
Maple syrup urine disease (MSUD) type 1B |
BCKDHB |
|
Maple syrup urine disease (MSUD) type 2 |
DBT |
|
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency |
ACADM |
|
Megalencephalic leukoencephalopathy with subcortical cysts type 1 |
MLC1 |
|
Menkes disease/ ATP7A-related disorders (including Occipital horn syndrome and Distal hereditary motor neuropathy) |
ATP7A |
|
Metachromatic leukodystrophy |
ARSA |
|
Methylmalonic acidemia (MMAA-related) |
MMAA |
|
Methylmalonic acidemia (MMAB-related) |
MMAB |
|
Methylmalonic acidemia (MUT-related) |
MUT |
|
Methylmalonic acidemia with homocystinuria, cobalamin C type |
MMACHC |
|
Methylmalonic acidemia with homocystinuria, cobalamin D type |
MMADHC |
|
Microphthalmia / clinical anophthalmia |
VSX2 |
|
Mitochondrial DNA depletion syndrome |
MPV17 |
|
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related) |
NDUFAF5 |
|
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6- related) |
NDUFS6 |
|
Mitochondrial myopathy and sideroblastic anemia 1 |
PUS1 |
|
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease |
TYMP |
|
Mucolipidosis type II/III (GNPTAB-related) |
GNPTAB |
|
Mucolipidosis type III (GNPTG-related) |
GNPTG |
|
Mucolipidosis type IV |
MCOLN1 |
|
Mucopolysaccharidosis type I (includes Hurler, Hurler-Scheie, and Scheie syndromes) |
IDUA |
|
Mucopolysaccharidosis type II (Hunter syndrome) |
IDS |
|
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) |
SGSH |
|
Mucopolysaccharidosis type IIIB |
NAGLU |
|
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/ Retinitis pigmentosa 73 |
HGSNAT |
|
Mucopolysaccharidosis type IIID (Sanfilippo syndrome) |
GNS |
|
Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis |
GLB1 |
|
Mucopolysaccharidosis type IX |
HYAL1 |
|
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
ARSB |
|
Multiple sulfatase deficiency |
SUMF1 |
|
N-Acetylglutamate synthase deficiency |
NAGS |
|
Nemaline myopathy 2 |
NEB |
|
Nephrogenic diabetes insipidus (AQP2-related) |
AQP2 |
|
Nephrotic syndrome/ Congenital Finnish nephrosis (NPHS1-related) |
NPHS1 |
|
Nephrotic syndrome/Steroid-resistant nephrotic syndrome (NPHS2-related) |
NPHS2 |
|
Neuronal ceroid lipofuscinosis (TPP1-related) |
TPP1 |
|
Neuronal ceroid-lipofuscinosis (CLN3-related) |
CLN3 |
|
Neuronal ceroid-lipofuscinosis (CLN5-related) |
CLN5 |
|
Neuronal ceroid-lipofuscinosis (CLN6-related) |
CLN6 |
|
Neuronal ceroid-lipofuscinosis (MFSD8-related) |
MFSD8 |
|
Neuronal ceroid-lipofuscinosis (PPT1-related) |
PPT1 |
|
Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) |
CLN8 |
|
Niemann-Pick disease type A/B |
SMPD1 |
|
Niemann-Pick disease type C (NPC1-related) |
NPC1 |
|
Niemann-Pick disease type C (NPC2-related) |
NPC2 |
|
Nijmegen breakage syndrome |
NBN |
|
Ornithine aminotransferase deficiency |
OAT |
|
Ornithine transcarbamylase (OTC) deficiency |
OTC |
|
Osteopetrosis (TCIRG1-related) |
TCIRG1 |
|
POMGNT1-related disorders (including Muscle eye brain disease) |
POMGNT1 |
|
PRPS1-related disorders (including Charcot-Marie-Tooth disease type 5 and Arts syndrome) |
PRPS1 |
|
Pendred syndrome |
SLC26A4 |
|
Peroxisomal acyl-CoA oxidase deficiency |
ACOX1 |
|
Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU)) |
PAH |
|
Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome |
PHGDH |
|
Polycystic kidney disease (PKHD1-related) |
PKHD1 |
|
Polymicrogyria (ADGRG1-related) |
ADGRG1 |
|
Pontocerebellar hypoplasia (RARS2-related) |
RARS2 |
|
Pontocerebellar hypoplasia (SEPSECS-related) |
SEPSECS |
|
Pontocerebellar hypoplasia (VRK1-related) |
VRK1 |
|
Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related) |
MED17 |
|
Primary Ciliary Dyskinesia (DNAH5-related) |
DNAH5 |
|
Primary Ciliary Dyskinesia (DNAI1-related) |
DNAI1 |
|
Primary Ciliary Dyskinesia (DNAI2-related) |
DNAI2 |
|
Primary carnitine deficiency |
SLC22A5 |
|
Primary hyperoxaluria type 1 |
AGXT |
|
Primary hyperoxaluria type 2 |
GRHPR |
|
Primary hyperoxaluria type 3 |
HOGA1 |
|
Progressive familial intrahepatic cholestasis type 2 |
ABCB11 |
|
Propionic acidemia (PCCA-related) |
PCCA |
|
Propionic acidemia (PCCB-related) |
PCCB |
|
Prothrombin-related thrombophilia |
F2 |
|
Pycnodysostosis |
CTSK |
|
Pyruvate carboxylase deficiency |
PC |
|
Pyruvate dehydrogenase deficiency (PDHA1-related) |
PDHA1 |
|
Pyruvate dehydrogenase deficiency (PDHB-related) |
PDHB |
|
RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5) |
RPGRIP1L |
|
RTEL-1-related disorders (including Dyskeratosis congenita) |
RTEL1 |
|
Renal tubular acidosis with deafness (ATP6V1B1-related) |
ATP6V1B1 |
|
Retinitis Pigmentosa 28 |
FAM161A |
|
Retinitis pigmentosa 25 |
EYS |
|
Retinitis pigmentosa 26 |
CERKL |
|
Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related) |
PEX7 |
|
Rhizomelic chondrodysplasia punctata type 3 |
AGPS |
|
Roberts syndrome |
ESCO2 |
|
SLC26A2-related disorders (including Diatrophic dysplasia, Atelosteogenesis type 2, Achondrogenesis type 1B/ Multiple metaphyseal dysplasia) |
SLC26A2 |
|
SLC35A3-related disorder |
SLC35A3 |
|
Sandhoff disease |
HEXB |
|
Schimke immuno-osseous dysplasia |
SMARCAL1 |
|
Severe combined immune deficiency (DCLRE1C-related) |
DCLRE1C |
|
Severe combined immunodeficiency/ Omenn syndrome (RAG2-related) |
RAG2 |
|
Severe congenital neutropenia (VPS45-related) |
VPS45 |
|
Sialic acid storage disorders |
SLC17A5 |
|
Sjögren-Larsson syndrome |
ALDH3A2 |
|
Smith-Lemli-Opitz syndrome |
DHCR7 |
|
Spastic paraplegia type 15 |
ZFYVE26 |
|
Spastic paraplegia type 49 |
TECPR2 |
|
Spinal muscular atrophy |
SMN1 |
|
Spondylothoracic dysostosis |
MESP2 |
|
Steel Syndrome |
COL27A1 |
|
Stüve-Wiedemann syndrome |
LIFR |
|
Tay-Sachs disease/ Hexosaminidase A deficiency |
HEXA |
|
Tetrahydrobiopterin deficiency (PTS-related) |
PTS |
|
Transient infantile liver failure (TRMU-related) |
TRMU |
|
Tyrosine hydroxylase deficiency |
TH |
|
Tyrosinemia type I |
FAH |
|
Tyrosinemia type II |
TAT |
|
Usher syndrome type IB/ MYO7A-related disorders |
MYO7A |
|
Usher syndrome type IC/ USH1C-related disorders |
USH1C |
|
Usher syndrome type ID |
CDH23 |
|
Usher syndrome type IF/ PCDH15-related disorders |
PCDH15 |
|
Usher syndrome type IIA/ USH2A-related disorders |
USH2A |
|
Usher syndrome type IIIA |
CLRN1 |
|
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency |
ACADVL |
|
WNT10A-related disorders (including Odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome) |
WNT10A |
|
Walker-Warburg syndrome/ FKRP-related disorders |
FKRP |
|
Walker-Warburg syndrome/ FKTN-related disorders |
FKTN |
|
Wilson disease |
ATP7B |
|
X-linked adrenoleukodystrophy |
ABCD1 |
|
X-linked creatine transporter deficiency |
SLC6A8 |
|
X-linked juvenile retinoschisis |
RS1 |
|
X-linked myotubular myopathy |
MTM1 |
|
X-linked severe combined immunodeficiency (X-SCID) |
IL2RG |
|
Xeroderma pigmentosum complemetation group A |
XPA |
|
Xeroderma pigmentosum complemetation group C |
XPC |
|
Zellweger spectrum disorder (PEX1-related) |
PEX1 |
|
Zellweger spectrum disorder (PEX10-related) |
PEX10 |
|
Zellweger spectrum disorder (PEX12-related) |
PEX12 |
|
Zellweger spectrum disorder (PEX2-related) |
PEX2 |
|
Zellweger spectrum disorder (PEX6-related) |
PEX6 |
