Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| 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 |
| F5 | Factor V deficiency | AR | 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 |
| FANCB | Fanconi anemia group B | XL | 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 |
| FANCI | Fanconi anemia, group I | AR | Premium |
| FANCL | Fanconi anemia, group L | AR | Premium |
| FBP1 | Fructose-1,6-bisphosphatase deficiency | AR | Premium |
| FBXO7 | Parkinson disease 15 | AR | Premium |
| FH | Fumarase deficiency | AR | Advanced Premium |
| FHL1 | FHL1-related neuromuscular disorders | XL | Premium |
| FKBP10 | Osteogenesis imperfecta type XI | AR | Premium |
| FKRP | Muscular dystrophy-dystroglycanopathy, FKRP-related | AR | Advanced Premium |
| FKTN | FKTN-related Alpha-dystroglycanopathies | AR | Advanced Premium |
| FMO3 | Trimethylaminuria | AR | Premium |
| FMR1 | Fragile X syndrome | XL | Premium |
| FOXN1 | T-cell immunodeficiency with thymic aplasia | AR | Premium |
| FOXRED1 | Mitochondrial complex I deficiency | AR | Premium |
| FRAS1 | Fraser syndrome | AR | Premium |
| FREM2 | Fraser syndrome | AR | Premium |
| FUCA1 | Fucosidosis | AR | 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 |
| GHR | Growth hormone insensitivity syndrome | AR | 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 |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 | AR | 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 |
| GRHPR | Primary hyperoxaluria type II | AR | Advanced Premium |
| GRIP1 | Fraser syndrome | AR | Premium |
| GSS | Glutathione synthetase deficiency | AR | Premium |
| GUCY2D | Leber congenital amaurosis 1 | AR | Advanced Premium |
| GUSB | Mucopolysaccharidosis type VII (Sly syndrome) | AR | Advanced Premium |
| HADH | Familial hyperinsulinemic hypoglycemia 4 | AR | Advanced Premium |
| HADHA | Trifunctional protein deficiency | AR | Advanced Premium |
| HADHB | Trifunctional protein deficiency | AR | Advanced Premium |
| HAMP | Hemochromatosis, type 2B | AR | Premium |
| HAX1 | Severe congenital neutropenia, HAX1-related | AR | Advanced Premium |
| HBA1 | Alpha thalassemia | AR | Advanced Premium |
| HBA2 | Alpha thalassemia | AR | Advanced Premium |
| HBB | Beta-Hemoglobinopathies (Beta Thalassaemia) | AR | Advanced Premium |
| HCFC1 | Methylmalonic acidemia with homocystinuria, type cblX | XL | Premium |
| HEXA | Tay-Sachs disease | AR | Advanced Premium |
| HEXB | Sandhoff disease | AR | Advanced Premium |
| HFE | Hereditary Hemochromatosis | AR | Advanced Premium |
| HFE2 | Hemochromatosis, Type 2A | AR | Advanced Premium |
| HGD | Alkaptonuria | AR | Advanced Premium |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) | AR | Advanced Premium |
| HJV | Hemochromatosis, type 2A | AR | Premium |
| HLCS | Holocarboxylase synthetase deficiency | AR | Advanced Premium |
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | AR | Advanced Premium |
| HMOX1 | Heme oxygenase 1 deficiency | AR | Advanced Premium |
| HOGA1 | Primary hyperoxaluria type III | AR | Advanced Premium |
| HPD | Tyrosinemia type III | AR | Advanced Premium |
| HPRT1 | HPRT1-related conditions (Lesch-Nyhan syndrome) | XL | Premium |
| HPS1 | Hermansky-Pudlak syndrome 1 | AR | Advanced Premium |