Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| HPS3 | Hermansky-Pudlak syndrome 3 | AR | Advanced Premium |
| HPS4 | Hermansky-Pudlak syndrome 4 | AR | Advanced Premium |
| HPS5 | Hermansky-Pudlak syndrome 5 | AR | Premium |
| HPS6 | Hermansky-Pudlak syndrome 6 | AR | Premium |
| HSD17B10 | HSD10 mitochondrial disease | XL | Premium |
| HSD17B3 | 17-Beta-Hydroxysteroid Dehydrogenase Deficiency | AR | Advanced Premium |
| HSD17B4 | D-bifunctional protein deficiency | AR | Advanced Premium |
| HSD3B2 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR | Advanced Premium |
| HTRA2 | 3-methylglutaconic aciduria type 8 | AR | Advanced Premium |
| HYAL1 | Mucopolysaccharidosis type IX | AR | Premium |
| HYLS1 | Hydrolethalus syndrome | AR | Advanced Premium |
| IDS | Mucopolysaccharidosis type II (Hunter syndrome) | XL | Advanced Premium |
| IDUA | Mucopolysaccharidosis type I (Hurler syndrome) | AR | Advanced Premium |
| IGHMBP2 | IGHMBP2-related neuropathies | AR | Premium |
| IKBKAP | Dysautonomia, familial | AR | Advanced Premium |
| IKBKB | Immunodeficiency 15B | AR | Premium |
| IL2RG | Severe combined immunodeficiency, X-linked | XL | Advanced Premium |
| IL7R | Severe Combined Immunodeficiency 104 | AR | Advanced Premium |
| INVS | Nephronophthisis 2 | AR | Premium |
| ITGA6 | Junctional epidermolysis bullosa | AR | Premium |
| ITGB3 | Glanzmann thrombasthenia | AR | Advanced Premium |
| ITGB4 | Junctional epidermolysis bullosa | AR | Premium |
| IVD | Isovaleric Acidemia | AR | Advanced Premium |
| JAK3 | Severe combined immunodeficiency, JAK3-related | AR | Advanced Premium |
| KCNJ1 | Bartter syndrome | AR | Premium |
| KCNJ11 | KCNJ11-related hyperinsulinism | AR | Advanced Premium |
| L1CAM | L1 syndrome (L1CAM-related) | XL | Advanced Premium |
| LAMA2 | Muscular dystrophy, LAMA2-related | AR | Advanced Premium |
| LAMA3 | Junctional epidermolysis bullosa 2 | AR | Advanced Premium |
| LAMB3 | Junctional epidermolysis bullosa, LAMB3-related | AR | Advanced Premium |
| LAMC2 | Junctional epidermolysis bullosa, LAMC2-related | AR | Advanced Premium |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (LARGE1-related) | AR | Premium |
| LCA5 | Leber congenital amaurosis 5 | AR | Advanced Premium |
| LDLR | Familial Hypercholesterolemia | AR | Advanced Premium |
| LDLRAP1 | Familial Hypercholesterolemia | AR | Advanced Premium |
| LHCGR | Leydig cell hypoplasia | AR | Advanced Premium |
| LHX3 | Combined pituitary hormone deficiency 3 | AR | Premium |
| LIFR | Stuve-Wiedemann syndrome | AR | Advanced Premium |
| LIG4 | LIG4 syndrome | AR | Premium |
| LIPA | Lysosomal acid lipase deficiency (Wolman disease) | AR | Advanced Premium |
| LIPH | Woolly Hair/Hypotrichosis Syndrome | AR | Advanced Premium |
| LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | AR | Premium |
| LOXHD1 | Nonsyndromic hearing loss, LOXHD1-related | AR | Advanced Premium |
| LPL | Familial lipoprotein lipase deficiency | AR | Advanced Premium |
| LRAT | Leber congenital amaurosis 14 | AR | Premium |
| LRP2 | Donnai-Barrow syndrome | AR | Premium |
| LRPPRC | Leigh syndrome with Complex IV deficiency | AR | Advanced Premium |
| LYST | Chediak-Higashi syndrome | AR | Advanced Premium |
| MAK | Retinitis Pigmentosa 62 | AR | Premium |
| MAN2B1 | Alpha-Mannosidosis | AR | Advanced Premium |
| MANBA | Beta-Mannosidosis | AR | Premium |
| MAT1A | Hypermethioninemia | AR | Advanced Premium |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR | Advanced Premium |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR | Advanced Premium |
| MCEE | Methylmalonyl-CoA epimerase deficiency | AR | Premium |
| MCOLN1 | Mucolipidosis IV | AR | Advanced Premium |
| MCPH1 | Primary microcephaly, recessive | AR | Advanced Premium |
| MECP2 | MECP2-related conditions | XL | Advanced Premium |
| MECR | Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | AR | Premium |
| MED17 | Postnatal Progressive Microcephaly with Seizures and Brain Atrophy | AR | Advanced Premium |
| MEFV | Familial Mediterranean fever | AR | Advanced Premium |
| MESP2 | Spondylocostal dysostosis | AR | Advanced Premium |
| MFSD8 | Neuronal ceroid lipofuscinosis, MFSD8-related | AR | Advanced Premium |
| MID1 | Opitz GBBB syndrome, type I | XL | Premium |
| MKKS | Bardet-Biedl syndrome 6 | AR | Advanced Premium |
| MKS1 | MKS1-related ciliopathies | AR | Advanced Premium |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | AR | Advanced Premium |
| MLYCD | Malonyl-CoA decarboxylase deficiency | AR | Advanced Premium |
| MMAA | Methylmalonic aciduria, cblA type | AR | Advanced Premium |
| MMAB | Methylmalonic aciduria, cblB type | AR | Advanced Premium |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | AR | Advanced Premium |
| MMADHC | Methylmalonic aciduria and homocystinuria, cblD type | AR | Advanced Premium |
| MMUT | Methylmalonic acidemia | AR | Advanced Premium |
| MOCS1 | Molybdenum cofactor deficiency A | AR | Advanced Premium |
| MOCS2 | Molybdenum cofactor deficiency B | AR | Premium |
| MPI | Congenital disorder of glycosylation type Ib (MPI) | AR | Advanced Premium |
| MPL | Congenital amegakaryocytic thrombocytopenia | AR | Advanced Premium |
| MPV17 | Hepatocerebral mitochondrial DNA depletion syndrome, MPV17-related | AR | Advanced Premium |
| MRE11 | Ataxia-Telangiectasia-Like Disorder 1 | AR | Advanced Premium |
| MTHFR | Homocystinuria, MTHFR-related | AR | Advanced Premium |
| MTM1 | Myotubular myopathy, X-linked | XL | Advanced Premium |
| MTR | Methylcobalamin deficiency, type cblG | AR | Premium |
| MTRR | Homocystinuria-megaloblastic anemia, cobalamin E type | AR | Advanced Premium |
| MTTP | Abetalipoproteinemia | AR | Advanced Premium |
| MUSK | MUSK-related conditions | AR | Premium |
| MUT | Methylmalonic aciduria-methylmalonyl-CoA mutase deficiency | AR | Premium |
| MVK | Mevalonate kinase deficiency | AR | Premium |
| MYO15A | Nonsyndromic hearing loss, MYO15A-related | AR | Advanced Premium |
| MYO7A | MYO7A-related disorders (Usher syndrome 1B) | AR | Advanced Premium |
| NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) | AR | Advanced Premium |
| NAGS | N-acetylglutamate synthase deficiency | AR | Advanced Premium |
| NBN | Nijmegen breakage syndrome | AR | Advanced Premium |
| NCF2 | Chronic granulomatous disease 2 | AR | Premium |
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | AR | Advanced Premium |
| NDUFAF2 | Mitochondrial complex I deficiency | AR | Premium |
| NDUFAF5 | Mitochondrial complex I deficiency (Leigh syndrome), NDUFAF5-related | AR | Advanced Premium |
| NDUFS4 | Mitochondrial complex I deficiency | AR | Advanced Premium |
| NDUFS6 | Mitochondrial complex I deficiency (Leigh syndrome), NDUFS6-related | AR | Advanced Premium |
| NDUFS7 | Mitochondrial complex I deficiency | AR | Premium |
| NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 | AR | Premium |