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 |
| ABCA4 | Stargardt disease | AR | Advanced Premium |
| ABCB11 | Progressive familial intrahepatic cholestasis | AR | Advanced Premium |
| ABCB4 | Progressive familial intrahepatic cholestasis | AR | Advanced 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 |
| 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 |
| 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 |
| 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 |
| AMT | Glycine encephalopathy | AR | Advanced 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 |
| ARSA | Metachromatic leukodystrophy | AR | Advanced Premium |
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) | AR | Advanced 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| CDH23 | Usher syndrome, type 1D | AR | Advanced Premium |
| CEP152 | Microcephaly 9, primary, autosomal recessive (CEP152-related disorders) | AR | Advanced Premium |
| CEP290 | CEP290-related Ciliopathies | AR | Advanced Premium |
| CERKL | Retinitis pigmentosa 26 | AR | Advanced Premium |
| CFTR | Cystic fibrosis | AR | Advanced Premium |
| CHM | Choroideremia, X-linked | XL | Advanced Premium |
| CHRNE | Congenital myasthenic syndrome | AR | Advanced Premium |
| CHRNG | Multiple pterygium syndrome | AR | Advanced Premium |
| CIITA | Bare lymphocyte syndrome, type II | AR | Advanced Premium |
| CLN3 | Neuronal ceroid lipofuscinosis | AR | Advanced Premium |
| CLN5 | Neuronal ceroid lipofuscinosis, CLN5-related | AR | Advanced Premium |
| CLN6 | Neuronal ceroid lipofuscinosis, CLN6-related | AR | Advanced Premium |
| CLN8 | Neuronal ceroid lipofuscinosis, CLN8-related | AR | Advanced Premium |
| CLRN1 | Usher syndrome, type 3A | AR | Advanced Premium |
| CNGA3 | Achromatopsia, type 2 | AR | Advanced Premium |
| CNGB3 | Achromatopsia 3 | AR | Advanced Premium |
| COL11A2 | Otospondylomegaepiphyseal dysplasia/COL11A2-related disorders | AR | Advanced Premium |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type | AR | Advanced Premium |
| COL4A3 | Alport syndrome, COL4A3-related | AR | Advanced Premium |
| COL4A4 | Alport syndrome, COL4A4-related | AR | Advanced Premium |
| COL4A5 | Alport syndrome, COL4A5-related | XL | Advanced Premium |
| COL7A1 | Dystrophic epidermolysis bullosa | AR | Advanced Premium |
| CPS1 | Carbamoylphosphate synthetase I deficiency | AR | Advanced Premium |
| CPT1A | Carnitine Palmitoyltransferase IA deficiency | AR | Advanced Premium |
| CPT2 | Carnitine Palmitoyltransferase II deficiency | AR | Advanced Premium |
| CRB1 | Leber congenital amaurosis 8 / CRB1-related retinopathy | AR | Advanced Premium |
| CTNS | Cystinosis | AR | Advanced Premium |
| CTSC | Papillon-Lefèvre syndrome | AR | Advanced Premium |