Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| AAAS | Achalasia-addisonism-alacrima (Triple A) syndrome | AR | Advanced Premium |
| ABCA12 | Congenital ichthyosis, ABCA12-related | AR | Advanced Premium |
| ABCA3 | Surfactant metabolism dysfunction, pulmonary 3 | AR | Premium |
| ABCA4 | Stargardt disease | AR | Advanced Premium |
| ABCB11 | Progressive familial intrahepatic cholestasis | AR | Advanced Premium |
| ABCB4 | Progressive familial intrahepatic cholestasis | AR | Advanced Premium |
| ABCC2 | Dubin-Johnson syndrome | AR | Premium |
| ABCC6 | Arterial calcification, generalized, of infancy, 2/Pseudoxanthoma elasticum | AR | Advanced Premium |
| ABCC8 | Familial hyperinsulinism | AR | Advanced Premium |
| ABCD1 | Adrenoleukodystrophy, X-linked | XL | Advanced Premium |
| ACAD9 | Acyl-CoA dehydrogenase-9 (ACAD9) deficiency/ Mitochondrial Complex 1 Deficiency | AR | Advanced Premium |
| ACADM | Medium-chain acyl-CoA dehydrogenase deficiency | AR | Advanced Premium |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR | Advanced Premium |
| ACADSB | 2-methylbutyrylglycinuria | AR | Advanced Premium |
| ACADVL | Very long-chain acyl-CoA dehydrogenase deficiency | AR | Advanced Premium |
| ACAT1 | Beta-ketothiolase deficiency | AR | Advanced Premium |
| ACE | Renal tubular dysgenesis - ace | AR | Advanced Premium |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | AR | Advanced Premium |
| ACSF3 | Combined malonic and methylmalonic aciduria | AR | Advanced Premium |
| ADA | Adenosine deaminase deficiency | AR | Advanced Premium |
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | AR | Advanced Premium |
| ADAMTSL4 | Isolated ectopia lentis | AR | Premium |
| ADGRG1 | Bilateral frontoparietal polymicrogyria | AR | Premium |
| ADGRV1 | Usher syndrome, type IIIC | AR | Premium |
| ADK | Adenosine kinase deficiency | AR | Advanced Premium |
| AGA | Aspartylglucosaminuria | AR | Advanced Premium |
| AGL | Glycogen storage disease type III | AR | Advanced Premium |
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 | AR | Advanced Premium |
| AGXT | Primary hyperoxaluria type I | AR | Advanced Premium |
| AHCY | Hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase | AR | Advanced Premium |
| AHI1 | Joubert syndrome, AHI1-related | AR | Premium |
| AIPL1 | Childhood-onset severe retinal dystrophy, AIPL1-related | AR | Premium |
| AIRE | Autoimmune polyendocrinopathy syndrome type I | AR | Advanced Premium |
| ALDH3A2 | Sjögren-Larsson syndrome | AR | Advanced Premium |
| ALDH7A1 | Pyridoxine-dependent epilepsy | AR | Advanced Premium |
| ALDOB | Hereditary fructose intolerance | AR | Advanced Premium |
| ALG1 | Congenital disorder of glycosylation type Ik (ALG1) | AR | Premium |
| ALG13 | ALG13-related conditions | XL | Premium |
| ALG6 | Congenital disorder of glycosylation type Ic (ALG6) | AR | Advanced Premium |
| ALMS1 | Alström syndrome | AR | Advanced Premium |
| ALPL | Hypophosphatasia | AR | Advanced Premium |
| AMH | Persistent Müllerian duct syndrome type 1 | AR | Advanced Premium |
| AMHR2 | Persistent Müllerian duct syndrome type 2 | AR | Advanced Premium |
| AMN | Megaloblastic anemia 1 | AR | Premium |
| AMT | Glycine encephalopathy | AR | Advanced Premium |
| ANO10 | Spinocerebellar ataxia 10 | AR | Premium |
| AP1S1 | MEDNIK syndrome | AR | Advanced Premium |
| AQP2 | Nephrogenic diabetes insipidus | AR | Advanced Premium |
| AR | Androgen insensitivity syndrome | XL | Advanced Premium |
| ARG1 | Arginase deficiency | AR | Advanced Premium |
| ARL6 | ARL6-related disorders | AR | Premium |
| ARSA | Metachromatic leukodystrophy | AR | Advanced Premium |
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | AR | Advanced Premium |
| ARSE | Chondrodysplasia punctata type 1, X-linked | XL | Premium |
| ARX | X-linked intellectual disability, ARX-related | XL | Premium |
| ASL | Argininosuccinate lyase deficiency | AR | Advanced Premium |
| ASNS | Asparagine synthetase deficiency | AR | Advanced Premium |
| ASPA | Canavan disease | AR | Advanced Premium |
| ASPM | Autosomal recessive primary microcephaly | AR | Advanced Premium |
| ASS1 | Citrullinemia | AR | Advanced Premium |
| ATM | Ataxia-telangiectasia/Ataxia with isolated vitamin E deficiency | AR | Advanced Premium |
| ATP6V1B1 | Renal tubular acidosis with deafness | AR | Advanced Premium |
| ATP7A | Menkes disease | XL | Advanced Premium |
| ATP7B | Wilson disease | AR | Advanced Premium |
| ATP8B1 | Progressive familial intrahepatic cholestasis | AR | Advanced Premium |
| ATRX | Alpha thalassemia X-linked intellectual disability syndrome | XL | Advanced Premium |
| AVPR2 | Nephrogenic diabetes insipidus | XL | Premium |
| BBS1 | Bardet-Biedl syndrome type 1 | AR | Advanced Premium |
| BBS10 | Bardet-Biedl syndrome type 10 | AR | Advanced Premium |
| BBS12 | Bardet-Biedl syndrome type 12 | AR | Advanced Premium |
| BBS2 | Bardet-Biedl syndrome 2 / Retinitis pigmentosa 74 | AR | Advanced Premium |
| BBS4 | Bardet-Biedl syndrome 4 | AR | Advanced Premium |
| BBS5 | Bardet-Biedl syndrome 5 | AR | Premium |
| BBS7 | Bardet-Biedl syndrome 7 | AR | Premium |
| BBS9 | Bardet-Biedl syndrome 9 | AR | Advanced Premium |
| BCHE | Pseudocholinesterase deficiency | AR | Advanced Premium |
| BCKDHA | Maple syrup urine disease type Ia | AR | Advanced Premium |
| BCKDHB | Maple syrup urine disease type Ib | AR | Advanced Premium |
| BCS1L | Mitochondrial complex II deficiency | AR | Advanced Premium |
| BLM | Bloom syndrome | AR | Advanced Premium |
| BLOC1S3 | Hermansky-Pudlak syndrome 8 | AR | Premium |
| BLOC1S6 | Hermansky-Pudlak syndrome 9 | AR | Premium |
| BMP1 | Osteogenesis imperfecta, type XIII | AR | Premium |
| BRIP1 | Fanconi anemia group J | AR | Advanced Premium |
| BSND | Bartter syndrome, Type 4A | AR | Advanced Premium |
| BTD | Biotinidase deficiency | AR | Advanced Premium |
| BTK | X-linked agammaglobulinemia | XL | Advanced Premium |
| CAD | Early Infantile Epileptic Encephalopathy 50 | AR | Premium |
| CANT1 | Desbuquois dysplasia 1 | AR | Advanced Premium |
| CAPN3 | Limb-girdle muscular dystrophy type 2A | AR | Advanced Premium |
| CASQ2 | Catecholaminergic Polymorphic Ventricular Tachycardia, CASQ2-related | AR | Advanced Premium |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency | AR | Advanced Premium |
| CC2D1A | Autosomal recessive intellectual developmental disorder 3 | AR | Advanced Premium |
| CC2D2A | Joubert syndrome 9 | AR | Premium |
| CCDC103 | Primary ciliary dyskinesia, type 17 | AR | Premium |
| CCDC39 | Primary ciliary dyskinesia, type 14 | AR | Premium |
| CCDC88C | Congenital hydrocephalus | AR | Premium |
| CD3D | Severe Combined Immunodeficiency | AR | Premium |
| CD3E | Severe Combined Immunodeficiency | AR | Premium |
| CD40 | Immunodeficiency with Hyper IgM syndrome | AR | Premium |