Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| CD40LG | Hyper IgM syndrome, X-linked | XL | Premium |
| CD59 | CD59 deficiency | AR | 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 |
| CHAT | Congenital myasthenic syndrome 6 | AR | 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 |
| CLCN1 | Autosomal recessive congenital myotonia | AR | 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 |
| COL17A1 | Junctional epidermolysis bullosa | AR | Premium |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type | AR | Advanced Premium |
| COL27A1 | Steel syndrome | AR | 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 |
| COX15 | Mitochondrial complex IV deficiency | AR | 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 |
| CRTAP | Osteogenesis imperfecta, type VII | AR | Premium |
| CRYL1 | GJB6-CRYL1 related nonsyndromic hearing loss | UK | Premium |
| CTNS | Cystinosis | AR | Advanced Premium |
| CTSA | Galactosialidosis | AR | Premium |
| CTSC | Papillon-Lefèvre syndrome | AR | Advanced Premium |
| CTSD | Neuronal ceroid lipofuscinosis, CTSD-related | AR | Advanced Premium |
| CTSK | Pycnodysostosis | AR | Advanced Premium |
| CYBA | Chronic granulomatous disease | AR | Advanced Premium |
| CYBB | Chronic granulomatous disease, X-linked | XL | Advanced Premium |
| CYP11A1 | Congenital adrenal insufficiency | AR | Premium |
| CYP11B1 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | AR | Advanced Premium |
| CYP11B2 | Corticosterone methyloxidase deficiency | AR | Advanced Premium |
| CYP17A1 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | AR | Advanced Premium |
| CYP19A1 | Aromatase deficiency | AR | Advanced Premium |
| CYP1B1 | Primary congenital glaucoma | AR | Advanced Premium |
| CYP21A2 | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency | AR | Advanced Premium |
| CYP27A1 | Cerebrotendinous xanthomatosis | AR | Advanced Premium |
| CYP27B1 | Vitamin D-dependent rickets, type I | AR | Advanced Premium |
| CYP7B1 | Congenital bile acid synthesis defect 3 | AR | Premium |
| DBT | Maple syrup urine disease, type II | AR | Advanced Premium |
| DCAF17 | Woodhouse-Sakati syndrome | AR | Premium |
| DCLRE1C | Severe combined immunodeficiency with sensitivity to ionizing radiation | AR | Advanced Premium |
| DDB2 | Xeroderma Pigmentosum Group E | AR | Advanced Premium |
| DDX11 | Warsaw breakage syndrome | AR | Premium |
| DGAT1 | Congenital chronic diarrhea (DGAT1-related) | AR | Premium |
| DGUOK | Mitochondrial DNA depletion syndrome 3 | AR | Premium |
| DHCR7 | Smith-Lemli-Opitz syndrome | AR | Advanced Premium |
| DHDDS | Retinitis pigmentosa 59 | AR | Advanced Premium |
| DKC1 | X-linked dyskeratosis congenita | XL | Advanced Premium |
| DLD | Dihydrolipoamide dehydrogenase deficiency | AR | Advanced Premium |
| DLL3 | Spondylocostal dysostosis 1 | AR | Premium |
| DMD | Duchenne Muscular Dystrophy | XL | Advanced Premium |
| DNAH1 | Primary ciliary dyskinesia, DNAH1-related | AR | Premium |
| DNAH11 | Primary ciliary dyskinesia (DNAH11-related) | AR | Premium |
| DNAH5 | Primary ciliary dyskinesia, DNAH5-related | AR | Advanced Premium |
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR | Advanced Premium |
| DNAI2 | Primary ciliary dyskinesia, DNAI2-related | AR | Advanced Premium |
| DNAJC19 | 3-methylglutaconic aciduria type 5 | AR | Advanced Premium |
| DNAL1 | Ciliary dyskinesia, primary, 16 | AR | Advanced Premium |
| DNMT3B | ICF Syndrome | AR | Premium |
| DOK7 | Congenital myasthenic syndrome, DOK7-related | AR | Advanced Premium |
| DPYD | Dihydropyrimidine Dehydrogenase Deficiency | AR | Advanced Premium |
| DUOX2 | Congenital hypothyroidism, DUOX2-related | AR | Premium |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR | Advanced Premium |
| DYSF | Limb-girdle muscular dystrophy type 2B | AR | Advanced Premium |
| EDA | Hypohidrotic ectodermal dysplasia, X-linked | XL | Advanced Premium |
| EDAR | Hypohidrotic Ectodermal Dysplasia | AR | Advanced Premium |
| EIF2AK3 | Wolcott-Rallison Syndrome | AR | Advanced Premium |
| EIF2B1 | Leukoencephalopathy with vanishing white matter | AR | Premium |
| EIF2B2 | Leukoencephalopathy with vanishing white matter | AR | Premium |
| EIF2B3 | Leukoencephalopathy with vanishing white matter | AR | Premium |
| EIF2B4 | Leukoencephalopathy with vanishing white matter | AR | Premium |
| EIF2B5 | Leukoencephalopathy with vanishing white matter | AR | Advanced Premium |
| ELP1 | Familial Dysautonomia | AR | Premium |
| EMD | Emery-Dreifuss muscular dystrophy, X-linked | XL | Advanced Premium |
| EPG5 | Vici syndrome | AR | Premium |
| ERCC2 | ERCC2-related disorders | AR | Advanced Premium |
| ERCC3 | Xeroderma Pigmentosum Group B | AR | Advanced Premium |
| ERCC4 | Xeroderma Pigmentosum Group F | AR | Advanced Premium |
| ERCC5 | Xeroderma pigmentosum, group G/Cockayne syndrome | AR | Advanced Premium |
| ERCC6 | ERCC6-related disorders | AR | Advanced Premium |
| ERCC8 | Cockayne syndrome type A | AR | Advanced Premium |
| ESCO2 | Roberts syndrome | AR | Advanced Premium |
| ETFA | Glutaric aciduria IIA | AR | Advanced Premium |
| ETFB | Glutaric aciduria IIB | AR | Advanced Premium |
| ETFDH | Glutaric aciduria IIC | AR | Advanced Premium |
| ETHE1 | Ethylmalonic encephalopathy | AR | Advanced Premium |