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What genetic conditions do we test for?
Eugene’s carrier tests only include serious and actionable conditions.
1. Serious genetic conditions
Conditions that impact a child’s life expectancy or development and have limited treatment options.
2. Results are actionable
The knowledge of being a carrier can open up reproductive options, including using IVF to avoid passing on the condition.
3. Relevant to everyone
With screening options ranging from 3 to over 500+ genes, our tests are relevant for people of all ethnicities & backgrounds.
Details for clinicians —
These tests include:
- All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
- Medicare rebate available for any partners that require testing under Core Carrier Screening.
- Actionable results; we do not report on variants of unknown significance
- Severe and prevalent conditions seen across all ethnicities
- Reports can be issued for an individual and also together as a couple in a combined couples report.
- Genetic counsellor and geneticist analysis, interpretation and support included with every test.
There are two types of conditions on Eugene’s carrier tests:
1. Recessive conditions
Recessive conditions cover the majority of conditions that are on the test. Carriers of recessive conditions are completely healthy and show no signs of the condition. However, if both parents are carriers of the same condition, there’s a one in four chance that their children would have the condition.
A couple of important things to note are that most people are carriers of one or more genetic conditions; And most children born with a recessive condition showed no family history of it.
2. X-linked conditions
For x-linked conditions the sex of the parent who passes on the variant influences the risk for the children. They are generally passed on from carrier mothers and more commonly affect boys.
If the mum is a healthy carrier and they have a son, there is a 50% chance that the child could be affected by the condition. If they have a daughter, there is a a 50% chance that they will be a healthy carrier — like her mum. At Eugene only females are screened for x-linked conditions.
Compare our carrier tests
Core
$399
- 3 total genes screened
- 2 recessive conditions
- 1 X-linked conditions
- 1 test, 1 report
- For individuals
- Free genetic counselling
Expanded
$795
- 289 total genes screened
- 268 recessive conditions
- 21 X-linked conditions
- 2 tests, 1 joint report
- For individuals or couples
- Free genetic counselling
Comprehensive
$995
- 556 total genes screened
- 513 recessive conditions
- 43 X-linked conditions
- 2 tests, 1 joint report
- For individuals or couples
- Free genetic counselling
Carrier + Health
$1950
- 723 total genes screened
- 513 recessive conditions
- 43 X-linked conditions
- 65 cancer risk genes
- 83 heart disease genes
- 19 other health risk genes
- 6 tests, 3 reports
- For couples
- Free genetic counselling
Full list of conditions tested
* X-Linked Conditions ^ Autosomal Dominant Conditions
| Condition | Gene | |||
|---|---|---|---|---|
| Core Carrier Screening | Expanded 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 |