Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| GRHPR | Primary hyperoxaluria type II | AR | Advanced 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 |
| 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 |
| 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 |
| 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 |
| HPS1 | Hermansky-Pudlak syndrome 1 | AR | Advanced Premium |
| HPS3 | Hermansky-Pudlak syndrome 3 | AR | Advanced Premium |
| HPS4 | Hermansky-Pudlak syndrome 4 | AR | Advanced 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 |
| HYLS1 | Hydrolethalus syndrome | AR | Advanced Premium |
| IDS | Mucopolysaccharidosis type II (Hunter syndrome) | XL | Advanced Premium |
| IDUA | Mucopolysaccharidosis type I (Hurler syndrome) | AR | Advanced Premium |
| IKBKAP | Dysautonomia, familial | AR | Advanced Premium |
| IL2RG | Severe combined immunodeficiency, X-linked | XL | Advanced Premium |
| IL7R | Severe Combined Immunodeficiency 104 | AR | Advanced Premium |
| ITGB3 | Glanzmann thrombasthenia | AR | Advanced Premium |
| IVD | Isovaleric Acidemia | AR | Advanced Premium |
| JAK3 | Severe combined immunodeficiency, JAK3-related | AR | Advanced 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 |
| 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 |
| LIFR | Stuve-Wiedemann syndrome | AR | Advanced Premium |
| LIPA | Lysosomal acid lipase deficiency (Wolman disease) | AR | Advanced Premium |
| LIPH | Woolly Hair/Hypotrichosis Syndrome | AR | Advanced Premium |
| LOXHD1 | Nonsyndromic hearing loss, LOXHD1-related | AR | Advanced Premium |
| LPL | Familial lipoprotein lipase deficiency | AR | Advanced Premium |
| LRPPRC | Leigh syndrome with Complex IV deficiency | AR | Advanced Premium |
| LYST | Chediak-Higashi syndrome | AR | Advanced Premium |
| MAN2B1 | Alpha-Mannosidosis | AR | Advanced 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 |
| MCOLN1 | Mucolipidosis IV | AR | Advanced Premium |
| MCPH1 | Primary microcephaly, recessive | AR | Advanced Premium |
| MECP2 | MECP2-related conditions | XL | Advanced 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 |
| 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 |
| 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 |
| MTRR | Homocystinuria-megaloblastic anemia, cobalamin E type | AR | Advanced Premium |
| MTTP | Abetalipoproteinemia | AR | Advanced 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 |
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | AR | Advanced 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 |
| NEB | Nemaline myopathy | AR | Advanced Premium |
| NEU1 | Sialidosis, type I and II | AR | Advanced Premium |
| NLRP7 | Hydatidiform Mole, Recurrent | AR | Advanced Premium |
| NPC1 | Niemann-Pick disease, type C1 | AR | Advanced Premium |
| NPC2 | Niemann-Pick disease, type C2 | AR | Advanced Premium |
| NPHP1 | NPHP1-related ciliopathies | AR | Advanced Premium |
| NPHS1 | Congenital nephrotic syndrome, type 1 | AR | Advanced Premium |
| NPHS2 | Congenital nephrotic syndrome, type 2 | AR | Advanced Premium |