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Full list of conditions tested on Comprehensive 556 gene panel
* X-Linked Conditions ^ Autosomal Dominant Conditions
| Condition | Gene | ||
|---|---|---|---|
| Core Carrier Screening | Comprehensive Carrier Screening | Cystic fibrosis | CFTR |
| Fragile X syndrome* | FMR1 | ||
| Spinal muscular atrophy | SMN1 | ||
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | ||
| ABCB11-related conditions | ABCB11 | ||
| ABCC8-related conditions | ABCC8 | ||
| Abetalipoproteinemia | MTTP | ||
| Achromatopsia (CNGB3-related) | CNGB3 | ||
| ACOX1-related conditions | ACOX1 | ||
| Acrodermatitis enteropathica | SLC39A4 | ||
| Adenosine deaminase deficiency | ADA | ||
| Aicardi-Goutieres syndrome 5 | SAMHD1 | ||
| Aldosterone synthase deficiency | CYP11B2 | ||
| 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 (COL4A5-related)* | COL4A5 | ||
| Alström syndrome | ALMS1 | ||
| Arginase deficiency | ARG1 | ||
| Argininosuccinate lyase deficiency | ASL | ||
| Aromatase deficiency | CYP19A1 | ||
| Asparagine synthetase deficiency | ASNS | ||
| Aspartylglucosaminuria | AGA | ||
| Ataxia with vitamin E deficiency | TTPA | ||
| ATM-related conditions | ATM | ||
| ATP7A-related conditions* | ATP7A | ||
| Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia | AIRE | ||
| Autosomal recessive congenital ichthyosis (TGM1-related) | TGM1 | ||
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay | SACS | ||
| Bardet-Biedl syndrome (BBS10-related) | BBS10 | ||
| Bardet-Biedl syndrome (BBS12-related) | BBS12 | ||
| BBS1-related conditions | BBS1 | ||
| BBS2-related conditions | BBS2 | ||
| BCS1L-related conditions | BCS1L | ||
| Beta-ketothiolase deficiency | ACAT1 | ||
| Biopterin-deficient hyperphenylalaninemia (PTS-related) | PTS | ||
| Bloom syndrome | BLM | ||
| BSND-related conditions | BSND | ||
| Canavan disease | ASPA | ||
| Carbamoyl phosphate synthetase I deficiency | CPS1 | ||
| Carnitine palmitoyltransferase I deficiency | CPT1A | ||
| Carnitine palmitoyltransferase II deficiency | CPT2 | ||
| Carpenter syndrome (RAB23-related) | RAB23 | ||
| Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | RMRP | ||
| CDH23-related conditions | CDH23 | ||
| CEP290-related conditions | CEP290 | ||
| Cerebrotendinous xanthomatosis | CYP27A1 | ||
| CERKL-related conditions | CERKL | ||
| Charcot-Marie-Tooth disease type 1X* | 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 | ||
| CLN3-related conditions | CLN3 | ||
| CLRN1-related conditions | CLRN1 | ||
| Cobalamin C deficiency | MMACHC | ||
| Cobalamin D deficiency | MMADHC | ||
| Cockayne syndrome A | ERCC8 | ||
| Cockayne syndrome B | ERCC6 | ||
| Cohen syndrome | VPS13B | ||
| Combined malonic and methylmalonic aciduria | ACSF3 | ||
| Combined oxidative phosphorylation deficiency 1 | GFM1 | ||
| Combined oxidative phosphorylation deficiency 3 | TSFM | ||
| Combined pituitary hormone deficiency (LHX3-related) | LHX3 | ||
| Combined pituitary hormone deficiency (PROP1-related) | PROP1 | ||
| Congenital adrenal hyperplasia due to 3-beta- hydroxysteroid dehydrogenase deficiency | HSD3B2 | ||
| Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | CYP21A2 | ||
| Congenital disorder of glycosylation (SLC35A3-related) | SLC35A3 | ||
| Congenital disorder of glycosylation type Ia | PMM2 | ||
| Congenital disorder of glycosylation type Ib | MPI | ||
| Congenital disorder of glycosylation type Ic | ALG6 | ||
| Congenital insensitivity to pain with anhidrosis | NTRK1 | ||
| Congenital myasthenic syndrome (CHRNE-related) | CHRNE | ||
| Congenital nephrotic syndrome type 1 | NPHS1 | ||
| Congenital nephrotic syndrome type 2 | NPHS2 | ||
| Corneal dystrophy and perceptive deafness | SLC4A11 | ||
| CRB1-related conditions | CRB1 | ||
| CYP11B1-related conditions | CYP11B1 | ||
| CYP17A1-related conditions | CYP17A1 | ||
| Cystinosis | CTNS | ||
| DHDDS-related conditions | DHDDS | ||
| Dihydrolipoamide dehydrogenase deficiency | DLD | ||
| Distal renal tubular acidosis with deafness (ATP6V1B1-related) | ATP6V1B1 | ||
| DMD-related conditions* | DMD | ||
| DYSF-related conditions | DYSF | ||
| Dyskeratosis congenita spectrum disorders (RTEL1-related) | RTEL1 | ||
| Dystrophic epidermolysis bullosa | COL7A1 | ||
| EDA-related conditions* | EDA | ||
| Ehlers-Danlos syndrome, dermatosparaxis type | ADAMTS2 | ||
| Ellis-van Creveld syndrome (EVC-related) | EVC | ||
| Emery-Dreifuss muscular dystrophy (EMD-related)* | EMD | ||
| Ethylmalonic encephalopathy | ETHE1 | ||
| EVC2-related conditions | EVC2 | ||
| Fabry disease* | GLA | ||
| Factor IX deficiency (hemophilia B)* | F9 | ||
| Familial chylomicronemia syndrome | LPL | ||
| Familial dysautonomia | ELP1 | ||
| Familial hypercholesterolemia (LDLR-related)^ | LDLR | ||
| Familial hypercholesterolemia (LDLRAP1-related) | LDLRAP1 | ||
| Fanconi anemia type A | FANCA | ||
| Fanconi anemia type C | FANCC | ||
| Fanconi anemia type G | FANCG | ||
| FH-related conditions | FH | ||
| Galactokinase deficiency galactosemia | GALK1 | ||
| Galactosemia (GALT-related) | GALT | ||
| GBA-related conditions including Gaucher disease | GBA | ||
| GBE1-related conditions | GBE1 | ||
| Gitelman syndrome | SLC12A3 | ||
| GJB2-related conditions | GJB2 | ||
| GLB1-related conditions | GLB1 | ||
| GLE1-related conditions | GLE1 | ||
| Glutaric acidemia type I | GCDH | ||
| Glutaric acidemia type IIA | ETFA | ||
| Glutaric acidemia type IIC | ETFDH | ||
| Glycine encephalopathy (AMT-related) | AMT | ||
| Glycine encephalopathy (GLDC-related) | GLDC | ||
| Glycogen storage disease type Ia | G6PC | ||
| Glycogen storage disease type II (Pompe disease) | GAA | ||
| Glycogen storage disease type III | AGL | ||
| Glycogen storage disease type V | PYGM | ||
| Glycogen storage disease type VII | PFKM | ||
| GNE-related conditions | GNE | ||
| GNPTAB-related conditions | GNPTAB | ||
| Guanidinoacetate methyltransferase deficiency | GAMT | ||
| Gyrate atrophy of the choroid and retina | OAT | ||
| HADHA-related conditions | HADHA | ||
| HBB-related hemoglobinopathies | HBB | ||
| Hereditary fructose intolerance | ALDOB | ||
| Hereditary hemochromatosis type 2 (HJV-related) | HJV | ||
| Hereditary hemochromatosis type 3 | TFR2 | ||
| Hermansky-Pudlak syndrome type 1 | HPS1 | ||
| Hermansky-Pudlak syndrome type 3 | HPS3 | ||
| HGSNAT-related conditions | HGSNAT | ||
| Holocarboxylase synthetase deficiency | HLCS | ||
| Homocystinuria due to cobalamin E deficiency | MTRR | ||
| Homocystinuria due to cystathionine beta-synthase deficiency | CBS | ||
| Homocystinuria due to MTHFR deficiency | MTHFR | ||
| HSD17B4-related conditions | HSD17B4 | ||
| Hydrolethalus syndrome type 1 | HYLS1 | ||
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | SLC25A15 | ||
| Hypophosphatasia | ALPL | ||
| Isovaleric acidemia | IVD | ||
| Joubert syndrome and related disorders (MKS1-related) | MKS1 | ||
| Joubert syndrome and related disorders (RPGRIP1L- related) | RPGRIP1L | ||
| Joubert syndrome and related disorders (TMEM216-related) | TMEM216 | ||
| Junctional epidermolysis bullosa (LAMC2-related) | LAMC2 | ||
| KCNJ11-related conditions | KCNJ11 | ||
| Krabbe disease | GALC | ||
| LAMA2-related muscular dystrophy | LAMA2 | ||
| LAMA3-related conditions | LAMA3 | ||
| LAMB3-related conditions | LAMB3 | ||
| Leber congenital amaurosis 5 | LCA5 | ||
| Leukoencephalopathy with vanishing white matter (EIF2B5-related) | EIF2B5 | ||
| Limb-girdle muscular dystrophy (CAPN3-related) | 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 | ||
| Lysinuric protein intolerance | SLC7A7 | ||
| Lysosomal acid lipase deficiency | LIPA | ||
| Major histocompatibility complex class II deficiency (CIITA- related) | CIITA | ||
| Maple syrup urine disease type 1A | BCKDHA | ||
| Maple syrup urine disease type 1B | BCKDHB | ||
| Maple syrup urine disease type 2 | DBT | ||
| Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | ||
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | MLC1 | ||
| Metachromatic leukodystrophy (ARSA-related) | ARSA | ||
| Methylmalonic acidemia (MMAA-related) | MMAA | ||
| Methylmalonic acidemia (MMAB-related) | MMAB | ||
| Methylmalonic acidemia (MUT-related) | MUT | ||
| MFSD8-related conditions | MFSD8 | ||
| Microcephaly, postnatal progressive, with seizures and brain atrophy | MED17 | ||
| Mitochondrial complex I deficiency 9 | NDUFS6 | ||
| Mitochondrial complex I deficiency 16 | NDUFAF5 | ||
| Mitochondrial complex I deficiency 20/ACAD9 deficiency | ACAD9 | ||
| Mitochondrial complex IV deficiency / Leigh syndrome, French Canadian type | LRPPRC | ||
| Mitochondrial neurogastrointestinal encephalomyopathy | TYMP | ||
| MPL-related conditions | MPL | ||
| MPV17-related conditions | MPV17 | ||
| Mucolipidosis type III gamma | GNPTG | ||
| Mucolipidosis type IV | MCOLN1 | ||
| Mucopolysaccharidosis type I | IDUA | ||
| Mucopolysaccharidosis type II* | IDS | ||
| Mucopolysaccharidosis type IIIA | SGSH | ||
| Mucopolysaccharidosis type IIIB | NAGLU | ||
| Mucopolysaccharidosis type IIID | GNS | ||
| Mucopolysaccharidosis type IX | HYAL1 | ||
| Mucopolysaccharidosis type VI | ARSB | ||
| Multiple sulfatase deficiency | SUMF1 | ||
| Muscular dystrophy-dystroglycanopathy (FKRP-related) | FKRP | ||
| Muscular dystrophy-dystroglycanopathy (FKTN-related) | FKTN | ||
| MYO7A-related conditions | MYO7A | ||
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | PUS1 | ||
| N-acetylglutamate synthase deficiency | NAGS | ||
| Nemaline myopathy 2 | NEB | ||
| Nephrogenic diabetes insipidus (AQP2-related) | AQP2 | ||
| Neuronal ceroid lipofuscinosis type 1 | PPT1 | ||
| Neuronal ceroid lipofuscinosis type 2 | TPP1 | ||
| Neuronal ceroid lipofuscinosis type 5 | CLN5 | ||
| Neuronal ceroid lipofuscinosis type 6 | CLN6 | ||
| Neuronal ceroid lipofuscinosis type 8 | CLN8 | ||
| Niemann-Pick disease type C (NPC1-related) | NPC1 | ||
| Niemann-Pick disease type C (NPC2-related) | NPC2 | ||
| Niemann-Pick disease types A and B | SMPD1 | ||
| Nijmegen breakage syndrome | NBN | ||
| Nonsyndromic deafness (LOXHD1-related) | LOXHD1 | ||
| NR2E3-related conditions | NR2E3 | ||
| OPA3-related conditions | OPA3 | ||
| Ornithine transcarbamylase deficiency* | OTC | ||
| Osteopetrosis (TCIRG1-related) | TCIRG1 | ||
| PCDH15-related conditions | PCDH15 | ||
| PEX7-related conditions | PEX7 | ||
| Phenylalanine hydroxylase deficiency | PAH | ||
| Phosphoglycerate dehydrogenase deficiency | PHGDH | ||
| Polycystic kidney disease (PKHD1-related) | PKHD1 | ||
| Polymicrogyria (ADGRG1-related) | ADGRG1 | ||
| POMGNT1-related conditions | POMGNT1 | ||
| Pontocerebellar hypoplasia type 2D | SEPSECS | ||
| Pontocerebellar hypoplasia type 6 | RARS2 | ||
| Primary carnitine deficiency | SLC22A5 | ||
| Primary ciliary dyskinesia (DNAH5-related) | DNAH5 | ||
| Primary ciliary dyskinesia (DNAI1-related) | DNAI1 | ||
| Primary ciliary dyskinesia (DNAI2-related) | DNAI2 | ||
| Primary hyperoxaluria type 1 | AGXT | ||
| Primary hyperoxaluria type 2 | GRHPR | ||
| Primary hyperoxaluria type 3 | HOGA1 | ||
| Propionic acidemia (PCCA-related) | PCCA | ||
| Propionic acidemia (PCCB-related) | PCCB | ||
| PRPS1-related conditions* | PRPS1 | ||
| PSAP-related conditions | PSAP | ||
| Pycnodysostosis | CTSK | ||
| Pyruvate carboxylase deficiency | PC | ||
| Pyruvate dehydrogenase complex deficiency (PDHA1-related)* | PDHA1 | ||
| Pyruvate dehydrogenase complex deficiency (PDHB- related) | PDHB | ||
| RAPSN-related conditions | RAPSN | ||
| RDH12-related conditions | RDH12 | ||
| Retinitis pigmentosa 25 | EYS | ||
| Retinitis pigmentosa 28 | FAM161A | ||
| Rhizomelic chondrodysplasia punctata type 3 | AGPS | ||
| Roberts syndrome | ESCO2 | ||
| RPE65-related conditions | RPE65 | ||
| Sandhoff disease | HEXB | ||
| Schimke immuno-osseous dysplasia | SMARCAL1 | ||
| Severe combined immunodeficiency due to DCLRE1C (Artemis) deficiency | DCLRE1C | ||
| Severe combined immunodeficiency due to RAG2 deficiency | RAG2 | ||
| Severe congenital neutropenia due to HAX1 deficiency | HAX1 | ||
| Severe congenital neutropenia due to VPS45 deficiency | VPS45 | ||
| Sialic acid storage diseases | SLC17A5 | ||
| Sjögren-Larsson syndrome | ALDH3A2 | ||
| SLC12A6-related conditions | SLC12A6 | ||
| SLC26A2-related conditions | SLC26A2 | ||
| SLC26A4-related conditions | SLC26A4 | ||
| SLC37A4-related conditions | SLC37A4 | ||
| Smith-Lemli-Opitz syndrome | DHCR7 | ||
| Spastic paraplegia type 15 | ZFYVE26 | ||
| Spastic paraplegia type 49 | TECPR2 | ||
| Spondylocostal dysostosis (MESP2-related) | MESP2 | ||
| Steel syndrome | COL27A1 | ||
| Stüve-Wiedemann syndrome | LIFR | ||
| Tay-Sachs disease | HEXA | ||
| Transient infantile liver failure | TRMU | ||
| Tyrosine hydroxylase deficiency | TH | ||
| Tyrosinemia type I | FAH | ||
| Tyrosinemia type II | TAT | ||
| USH1C-related conditions | USH1C | ||
| USH2A-related conditions | USH2A | ||
| Very long-chain acyl-CoA dehydrogenase deficiency | ACADVL | ||
| VRK1-related conditions | VRK1 | ||
| VSX2-related conditions | VSX2 | ||
| Wilson disease | ATP7B | ||
| WNT10A-related conditions | WNT10A | ||
| 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* | IL2RG | ||
| Xeroderma pigmentosum complementation group A | XPA | ||
| Xeroderma pigmentosum complementation group C | XPC | ||
| Zellweger spectrum disorder (PEX1-related) | PEX1 | ||
| Zellweger spectrum disorder (PEX2-related) | PEX2 | ||
| Zellweger spectrum disorder (PEX6-related) | PEX6 | ||
| Zellweger spectrum disorder (PEX10-related) | PEX10 | ||
| Zellweger spectrum disorder (PEX12-related) | PEX12 | ||
| 2-methyl-3-hydroxybutyric aciduria* | HSD17B10 | ||
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | HSD17B3 | ||
| ABCA3-related conditions | ABCA3 | ||
| ABCA4-related conditions | ABCA4 | ||
| ADGRV1-related conditions | ADGRV1 | ||
| AHI1-related conditions | AHI1 | ||
| Aicardi-Goutieres syndrome 2 | RNASEH2B | ||
| Aicardi-Goutieres syndrome 3 | RNASEH2C | ||
| Aicardi-Goutieres syndrome 4 | RNASEH2A | ||
| AIPL1-related conditions | AIPL1 | ||
| ALG13-related conditions* | ALG13 | ||
| Alpha-N-acetylgalactosaminidase deficiency | NAGA | ||
| Androgen insensitivity syndrome* | AR | ||
| ARL6-related conditions | ARL6 | ||
| ARX-related conditions* | ARX | ||
| Ataxia-telangiectasia-like disorder | MRE11 | ||
| ATP8B1-related conditions | ATP8B1 | ||
| Atransferrinemia | TF | ||
| Autosomal recessive congenital ichthyosis (ABCA12-related) | ABCA12 | ||
| AVPR2-related conditions* | AVPR2 | ||
| Bardet-Biedl syndrome (BBS7-related) | BBS7 | ||
| Bardet-Biedl syndrome (BBS9-related) | BBS9 | ||
| Barth syndrome* | TAZ | ||
| Bartter syndrome type 1 | SLC12A1 | ||
| Bartter syndrome type 2 | KCNJ1 | ||
| BBS4-related conditions | BBS4 | ||
| BBS5-related conditions | BBS5 | ||
| Beta-mannosidosis | MANBA | ||
| Biopterin-deficient hyperphenylalaninemia (PCBD1-related) | PCBD1 | ||
| Biopterin-deficient hyperphenylalaninemia (QDPR-related) | QDPR | ||
| Biotin-responsive basal ganglia disease | SLC19A3 | ||
| BRIP1-related conditions | BRIP1 | ||
| Brittle cornea syndrome (PRDM5-related) | PRDM5 | ||
| Brittle cornea syndrome (ZNF469-related) | ZNF469 | ||
| Cardioencephalomyopathy | SCO2 | ||
| Carnitine-acylcarnitine translocase deficiency | SLC25A20 | ||
| Catecholaminergic polymorphic ventricular tachycardia (CASQ2-related) | CASQ2 | ||
| CC2D2A-related conditions | CC2D2A | ||
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | VLDLR | ||
| Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma | SNAP29 | ||
| Charcot-Marie-Tooth disease type 4D | NDRG1 | ||
| Chediak-Higashi syndrome | LYST | ||
| Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | MECR | ||
| Chronic granulomatous disease (NCF2-related) | NCF2 | ||
| Cobalamin F deficiency | LMBRD1 | ||
| COL11A2-related conditions | COL11A2 | ||
| COL17A1-related conditions | COL17A1 | ||
| Combined pituitary hormone deficiency (POU1F1-related) | POU1F1 | ||
| Congenital adrenal insufficiency | CYP11A1 | ||
| Congenital chronic diarrhea (DGAT1-related) | DGAT1 | ||
| Congenital disorder of glycosylation type Ik | ALG1 | ||
| Congenital disorder of glycosylation type Iv | NGLY1 | ||
| Congenital dyserythropoietic anemia type II | SEC23B | ||
| Congenital hydrocephalus-1 | CCDC88C | ||
| Congenital hypothyroidism (TSHB-related) | TSHB | ||
| Congenital myasthenic syndrome (CHAT-related) | CHAT | ||
| Congenital secretory chloride diarrhea | SLC26A3 | ||
| CTSC-related conditions | CTSC | ||
| CYP1B1-related conditions | CYP1B1 | ||
| CYP7B1-related conditions | CYP7B1 | ||
| Cytochrome P450 oxidoreductase deficiency | POR | ||
| Desbuquois dysplasia type 1 | CANT1 | ||
| Developmental and epileptic encephalopathy (CAD-related) | CAD | ||
| DGUOK-related conditions | DGUOK | ||
| DOK7-related conditions | DOK7 | ||
| Donnai-Barrow syndrome | LRP2 | ||
| Dubin-Johnson syndrome | ABCC2 | ||
| DUOX2-related conditions | DUOX2 | ||
| DYNC2H1-related conditions | DYNC2H1 | ||
| Dyskeratosis congenita spectrum disorders (DKC1-related)* | DKC1 | ||
| Dyskeratosis congenita spectrum disorders (TERT-related) | TERT | ||
| Ehlers-Danlos syndrome, kyphoscoliotic type | PLOD1 | ||
| Epidermolysis bullosa with pyloric atresia (ITGB4-related) | ITGB4 | ||
| Epimerase deficiency galactosemia | GALE | ||
| ERCC2-related conditions | ERCC2 | ||
| Factor V Leiden thrombophilia^ | F5 | ||
| Familial hemophagocytic lymphohistiocytosis type 2 | PRF1 | ||
| Familial hemophagocytic lymphohistiocytosis type 3 | UNC13D | ||
| Familial hemophagocytic lymphohistiocytosis type 4 | STX11 | ||
| Familial hemophagocytic lymphohistiocytosis type 5 | STXBP2 | ||
| Fanconi anemia type B* | FANCB | ||
| Fanconi anemia type D2 | FANCD2 | ||
| Fanconi anemia type E | FANCE | ||
| Fanconi anemia type I | FANCI | ||
| Fanconi anemia type L | FANCL | ||
| FHL1-related conditions* | FHL1 | ||
| FKBP10-related conditions | FKBP10 | ||
| Foveal hypoplasia (SLC38A8-related) | SLC38A8 | ||
| FOXN1-related conditions | FOXN1 | ||
| Fraser syndrome (FRAS1-related) | FRAS1 | ||
| Fraser syndrome (FREM2-related) | FREM2 | ||
| Fraser syndrome (GRIP1-related) | GRIP1 | ||
| Fructose-1,6-bisphosphatase deficiency | FBP1 | ||
| Fucosidosis | FUCA1 | ||
| Galactosialidosis | CTSA | ||
| GATM-related conditions | GATM | ||
| GCH1-related conditions | GCH1 | ||
| GDF5-related conditions | GDF5 | ||
| Geroderma osteodysplastica | GORAB | ||
| GHR-related conditions | GHR | ||
| Glutaric acidemia type IIB | ETFB | ||
| Glutathione synthetase deficiency | GSS | ||
| Glycogen storage disease type IXb | PHKB | ||
| Glycogen storage disease type IXc | PHKG2 | ||
| GM3 synthase deficiency | ST3GAL5 | ||
| GUCY2D-related conditions | GUCY2D | ||
| HCFC1-related conditions* | HCFC1 | ||
| Heme oxygenase 1 deficiency | HMOX1 | ||
| Hemolytic anemia, CD59-mediated | CD59 | ||
| Hereditary hemochromatosis type 2 (HAMP-related) | HAMP | ||
| Hermansky-Pudlak syndrome type 4 | HPS4 | ||
| Hermansky-Pudlak syndrome type 5 | HPS5 | ||
| Hermansky-Pudlak syndrome type 6 | HPS6 | ||
| Hermansky-Pudlak syndrome type 8 | BLOC1S3 | ||
| Hermansky-Pudlak syndrome type 9 | BLOC1S6 | ||
| Homocystinuria due to cobalamin G deficiency | MTR | ||
| HPRT1-related conditions* | HPRT1 | ||
| Hyper-IgM immunodeficiency (CD40-related) | CD40 | ||
| Hyperphosphatemic familial tumoral calcinosis (GALNT3-related) | GALNT3 | ||
| Hypomyelinating leukodystrophy-12 | VPS11 | ||
| Ichthyosis prematurity syndrome | SLC27A4 | ||
| IGHMBP2-related conditions | IGHMBP2 | ||
| IKBKB-related conditions | IKBKB | ||
| Imerslund-Gr sbeck syndrome | AMN | ||
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DNMT3B | ||
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ZBTB24 | ||
| Isolated ectopia lentis | ADAMTSL4 | ||
| ITGB3-related conditions | ITGB3 | ||
| Johanson-Blizzard syndrome | UBR1 | ||
| Junctional epidermolysis bullosa with pyloric atresia (ITGA6-related) | ITGA6 | ||
| L1 syndrome* | L1CAM | ||
| Leukoencephalopathy with vanishing white matter (EIF2B1-related) | EIF2B1 | ||
| Leukoencephalopathy with vanishing white matter (EIF2B2-related) | EIF2B2 | ||
| Leukoencephalopathy with vanishing white matter (EIF2B3-related) | EIF2B3 | ||
| Leukoencephalopathy with vanishing white matter (EIF2B4-related) | EIF2B4 | ||
| LIG4 syndrome | LIG4 | ||
| Limb-girdle muscular dystrophy type 2F | SGCD | ||
| LRAT-related conditions | LRAT | ||
| Malonyl-CoA decarboxylase deficiency | MLYCD | ||
| MECP2-related conditions* | MECP2 | ||
| Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HADH | ||
| MEDNIK syndrome | AP1S1 | ||
| Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration | TANGO2 | ||
| Methylmalonic acidemia (MCEE-related) | MCEE | ||
| Microcephalic osteodysplastic primordial dwarfism type II | PCNT | ||
| Mitochondrial complex I deficiency 1 | NDUFS4 | ||
| Mitochondrial complex I deficiency 3 | NDUFS7 | ||
| Mitochondrial complex I deficiency 4 | NDUFV1 | ||
| Mitochondrial complex I deficiency 10 | NDUFAF2 | ||
| Mitochondrial complex I deficiency 19 | FOXRED1 | ||
| Mitochondrial complex IV deficiency 6 | COX15 | ||
| Mitochondrial complex IV deficiency 12 | PET100 | ||
| Mitochondrial DNA depletion syndrome-2 | TK2 | ||
| Mitochondrial trifunctional protein deficiency (HADHB- related) | HADHB | ||
| MKKS-related conditions | MKKS | ||
| Molybdenum cofactor deficiency (MOCS1-related) | MOCS1 | ||
| Molybdenum cofactor deficiency (MOCS2-related) | MOCS2B | ||
| Molybdenum cofactor deficiency (MOCS2-related) | MOCS2A | ||
| Mucopolysaccharidosis type IVA | GALNS | ||
| Mucopolysaccharidosis type VII | GUSB | ||
| Mulibrey nanism | TRIM37 | ||
| Multiple pterygium syndrome | CHRNG | ||
| Muscular dystrophy-dystroglycanopathy (LARGE1-related) | LARGE1 | ||
| Muscular dystrophy-dystroglycanopathy (POMT1-related) | POMT1 | ||
| Muscular dystrophy-dystroglycanopathy (POMT2-related) | POMT2 | ||
| Muscular dystrophy-dystroglycanopathy (RXYLT1-related) | RXYLT1 | ||
| MUSK-related conditions | MUSK | ||
| MVK-related conditions | MVK | ||
| Myotonia congenita | CLCN1 | ||
| Nephronophthisis (INVS-related) | INVS | ||
| Nephronophthisis (NPHP1-related) | NPHP1 | ||
| Neuronal ceroid lipofuscinosis type 10 | CTSD | ||
| Nonsyndromic deafness (MYO15A-related) | MYO15A | ||
| Nonsyndromic deafness (OTOA-related) | OTOA | ||
| Nonsyndromic deafness (SYNE4-related) | SYNE4 | ||
| Nonsyndromic deafness (TMC1-related) | TMC1 | ||
| Nonsyndromic deafness (TMPRSS3-related) | TMPRSS3 | ||
| Nonsyndromic intellectual disability (CC2D1A-related) | CC2D1A | ||
| NR0B1-related conditions* | NR0B1 | ||
| NSMCE3 deficiency | NSMCE3 | ||
| OCRL-related conditions* | OCRL | ||
| Oculocutaneous albinism type 2 | OCA2 | ||
| Oculocutaneous albinism type 3 | TYRP1 | ||
| Oculocutaneous albinism type 4 | SLC45A2 | ||
| Oculocutaneous albinism types 1A and 1B | TYR | ||
| Opitz GBBB syndrome (MID1-related)* | MID1 | ||
| Osteogenesis imperfecta (BMP1-related) | BMP1 | ||
| Osteogenesis imperfecta (CRTAP-related) | CRTAP | ||
| Osteogenesis imperfecta (P3H1-related) | P3H1 | ||
| OSTM1 deficiency associated osteopetrosis | OSTM1 | ||
| OTOF-related conditions | OTOF | ||
| Pantothenate kinase-associated neurodegeneration | PANK2 | ||
| Parkinson disease 15 | FBXO7 | ||
| PEX5-related conditions | PEX5 | ||
| PGM3-congenital disorder of glycosylation | PGM3 | ||
| PIGN-congenital disorder of glycosylation | PIGN | ||
| PJVK-related conditions | DFNB59 | ||
| PLA2G6-related conditions | PLA2G6 | ||
| PLEKHG5-related conditions | PLEKHG5 | ||
| PLP1-related conditions* | PLP1 | ||
| POLG-related conditions | POLG | ||
| Pontocerebellar hypoplasia (TSEN54-related) | TSEN54 | ||
| Pontocerebellar hypoplasia type 1B | EXOSC3 | ||
| Primary ciliary dyskinesia (CCDC39-related) | CCDC39 | ||
| Primary ciliary dyskinesia (CCDC103-related) | CCDC103 | ||
| Primary ciliary dyskinesia (DNAH11-related) | DNAH11 | ||
| Primary microcephaly (MCPH1-related) | MCPH1 | ||
| Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) | TBCD | ||
| Progressive familial intrahepatic cholestasis 3 | ABCB4 | ||
| Progressive pseudorheumatoid dysplasia | WISP3 | ||
| Prolidase deficiency | PEPD | ||
| Prothrombin-related thrombophilia^ | F2 | ||
| Pyridoxal 5'-phosphate-dependent epilepsy | PNPO | ||
| Pyridoxine-dependent epilepsy (ALDH7A1-related) | ALDH7A1 | ||
| Refsum disease (PHYH-related) | PHYH | ||
| Retinitis pigmentosa 2* | RP2 | ||
| Retinitis pigmentosa 36 | PRCD | ||
| Retinitis pigmentosa 62 | MAK | ||
| Rhizomelic chondrodysplasia punctata type 2 | GNPAT | ||
| RLBP1-related conditions | RLBP1 | ||
| RYR1-related conditions | RYR1 | ||
| SAMD9-related conditions | SAMD9 | ||
| Seckel syndrome (CEP152-related) | CEP152 | ||
| Sepiapterin reductase deficiency | SPR | ||
| Severe combined immunodeficiency due to CD3-delta deficiency | CD3D | ||
| Severe combined immunodeficiency due to CD3-epsilon deficiency | CD3E | ||
| Severe combined immunodeficiency due to CD45 deficiency | PTPRC | ||
| Severe combined immunodeficiency due to IL7R-alpha deficiency | IL7R | ||
| Severe combined immunodeficiency due to JAK3 deficiency | JAK3 | ||
| Severe combined immunodeficiency due to RAG1 deficiency | RAG1 | ||
| Severe congenital neutropenia due to G6PC3 deficiency | G6PC3 | ||
| Sialidosis | NEU1 | ||
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4 | ||
| SPG11-related conditions | SPG11 | ||
| Spinocerebellar ataxia (ANO10-related) | ANO10 | ||
| Spondylocostal dysostosis (DLL3-related) | DLL3 | ||
| Steroid 5-alpha-reductase deficiency | SRD5A2 | ||
| Sulfite oxidase deficiency | SUOX | ||
| SURF1-related conditions | SURF1 | ||
| TBCE-related conditions | TBCE | ||
| Thiamine-responsive megaloblastic anemia | SLC19A2 | ||
| Thyroid dyshormonogenesis (SLC5A5-related) | SLC5A5 | ||
| Thyroid dyshormonogenesis (TG-related) | TG | ||
| Thyroid dyshormonogenesis (TPO-related) | TPO | ||
| TMEM67-related conditions | TMEM67 | ||
| Transcobalamin II deficiency | TCN2 | ||
| TREX1-related conditions | TREX1 | ||
| Trichohepatoenteric syndrome (SKIV2L-related) | SKIV2L | ||
| Trichohepatoenteric syndrome (TTC37-related) | TTC37 | ||
| TRIM32-related conditions | TRIM32 | ||
| Trimethylaminuria | FMO3 | ||
| Triple A syndrome | AAAS | ||
| TSHR-related conditions | TSHR | ||
| TULP1-related conditions | TULP1 | ||
| Tyrosinemia type III | HPD | ||
| Vici syndrome | EPG5 | ||
| Vitamin D-dependent rickets type 1A | CYP27B1 | ||
| Vitamin D-dependent rickets type 2A | VDR | ||
| VPS53-related conditions | VPS53 | ||
| Warsaw syndrome | DDX11 | ||
| WAS-related conditions* | WAS | ||
| Werner syndrome | WRN | ||
| Wolcott-Rallison syndrome | EIF2AK3 | ||
| Woodhouse-Sakati syndrome | DCAF17 | ||
| X-linked agammaglobulinemia* | BTK | ||
| X-linked chondrodysplasia punctata type 1* | ARSE | ||
| X-linked hyper-IgM immunodeficiency* | CD40LG | ||
| Xeroderma pigmentosum, variant type | POLH | ||
| Zellweger spectrum disorder (PEX13-related) | PEX13 | ||
| Zellweger spectrum disorder (PEX16-related) | PEX16 | ||
| Zellweger spectrum disorder (PEX26-related) | PEX26 |