Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| 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 |
| 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 |
| DBT | Maple syrup urine disease, type II | AR | Advanced Premium |
| DCLRE1C | Severe combined immunodeficiency with sensitivity to ionizing radiation | AR | Advanced Premium |
| DDB2 | Xeroderma Pigmentosum Group E | AR | Advanced 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 |
| DMD | Duchenne Muscular Dystrophy | XL | Advanced 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 |
| DOK7 | Congenital myasthenic syndrome, DOK7-related | AR | Advanced Premium |
| DPYD | Dihydropyrimidine Dehydrogenase Deficiency | AR | Advanced 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 |
| EIF2B5 | Leukoencephalopathy with vanishing white matter | AR | Advanced Premium |
| EMD | Emery-Dreifuss muscular dystrophy, X-linked | XL | Advanced 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 |
| EVC | EVC-related bone growth disorders | AR | Advanced Premium |
| EVC2 | EVC2-related bone growth disorders | AR | Advanced Premium |
| EXOSC3 | Pontocerebellar hypoplasia type 1B | AR | Advanced Premium |
| EYS | Retinitis pigmentosa 25 | AR | Advanced Premium |
| F11 | Factor XI deficiency | AR | Advanced Premium |
| F2 | Prothrombin-related conditions | AR | Advanced Premium |
| F8 | Hemophilia A | XL | Advanced Premium |
| F9 | Hemophilia B | XL | Advanced Premium |
| FAH | Tyrosinemia type I | AR | Advanced Premium |
| FAM161A | Retinitis pigmentosa 28 | AR | Advanced Premium |
| FANCA | Fanconi anemia group A | AR | Advanced Premium |
| FANCC | Fanconi anemia group C | AR | Advanced Premium |
| FANCD2 | Fanconi anemia, group D2 | AR | Advanced Premium |
| FANCE | Fanconi anemia, group E | AR | Advanced Premium |
| FANCF | Fanconi anemia complementation group F | AR | Advanced Premium |
| FANCG | Fanconi anemia group G | AR | Advanced Premium |
| FH | Fumarase deficiency | AR | Advanced Premium |
| FKRP | Muscular dystrophy-dystroglycanopathy, FKRP-related | AR | Advanced Premium |
| FKTN | FKTN-related Alpha-dystroglycanopathies | AR | Advanced Premium |
| G6PC | Glycogen storage disease type Ia | AR | Advanced Premium |
| G6PC3 | Severe congenital neutropenia 4 | AR | Advanced Premium |
| G6PD | Glucose-6-phosphate dehydrogenase deficiency | XL | Advanced Premium |
| GAA | Pompe disease (Glycogen storage disease type II) | AR | Advanced Premium |
| GALC | Krabbe disease | AR | Advanced Premium |
| GALE | Galactose epimerase deficiency | AR | Advanced Premium |
| GALK1 | Galactokinase deficiency | AR | Advanced Premium |
| GALNS | Mucopolysaccharidosis type IVA (Morquio syndrome A) | AR | Advanced Premium |
| GALNT3 | Familial hyperphosphatemic tumoral calcinosis | AR | Advanced Premium |
| GALT | Galactosemia | AR | Advanced Premium |
| GAMT | Guanidinoacetate methyltransferase deficiency | AR | Advanced Premium |
| GATM | Cerebral creatine deficiency syndrome 3 | AR | Advanced Premium |
| GBA | Gaucher disease | AR | Advanced Premium |
| GBE1 | Glycogen storage disease type IV | AR | Advanced Premium |
| GCDH | Glutaric aciduria, type I | AR | Advanced Premium |
| GCH1 | Dopa-responsive dystonia/ GCH1-related conditions | AR | Advanced Premium |
| GDF5 | Du Pan Syndrome (Grebe syndrome) | AR | Advanced Premium |
| GFM1 | Combined oxidative phosphorylation deficiency, GFM1-related | AR | Advanced Premium |
| GH1 | Growth hormone deficiency, isolated, type IA (GH1-related) | AR | Advanced Premium |
| GHRHR | Isolated growth hormone deficiency, Type IB | AR | Advanced Premium |
| GJB1 | Charcot-Marie-Tooth disease, X-linked type 1 | XL | Advanced Premium |
| GJB2 | Nonsyndromic hearing loss, GJB2-related | AR | Advanced Premium |
| GJB3 | Erythrokeratodermia variabilis et progressiva | AR | Advanced Premium |
| GJB6 | GJB6-related nonsyndromic hearing loss | AR | Advanced Premium |
| GLA | Fabry disease | XL | Advanced Premium |
| GLB1 | GLB1-related gangliosidoses | AR | Advanced Premium |
| GLDC | Glycine encephalopathy, GLDC-related | AR | Advanced Premium |
| GLE1 | Lethal congenital contracture syndrome 1 | AR | Advanced Premium |
| GNE | Inclusion body myopathy type 2 (Nonaka myopathy) | AR | Advanced Premium |
| GNPTAB | Mucolipidosis II & III | AR | Advanced Premium |
| GNPTG | Mucolipidosis III gamma | AR | Advanced Premium |
| GNS | Mucopolysaccharidosis type IIID (Sanfilippo syndrome D) | AR | Advanced Premium |
| GORAB | Geroderma osteodysplasticum | AR | Advanced Premium |
| GP1BA | Bernard-Soulier syndrome type A1 | AR | Advanced Premium |
| GP1BB | Bernard-Soulier Syndrome, Type B | AR | Advanced Premium |
| GP9 | Bernard-Soulier syndrome type C | AR | Advanced Premium |