Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| NPR2 | Acromesomelic dysplasia 1, maroteaux type | AR | Advanced Premium |
| NR0B1 | Congenital adrenal hypoplasia, X-linked | XL | Advanced Premium |
| NR2E3 | NR2E3-related retinal dystrophies | AR | Advanced Premium |
| NTRK1 | Congenital insensitivity to pain with anhidrosis | AR | Advanced Premium |
| OAT | Gyrate atrophy of choroid and retina | AR | Advanced Premium |
| OCA2 | Oculocutaneous albinism type II | AR | Advanced Premium |
| OCRL | OCRL-related disorders | XL | Advanced Premium |
| OPA3 | Costeff syndrome (3-methylglutaconic aciduria, type III) | AR | Advanced Premium |
| OTC | Ornithine transcarbamylase deficiency | XL | Advanced Premium |
| OTOF | Nonsyndromic hearing loss, OTOF-related | AR | Advanced Premium |
| PAH | Phenylalanine Hydroxylase deficiency (Phenylketonuria) | AR | Advanced Premium |
| PANK2 | Pantothenate kinase-associated neurodegeneration | AR | Advanced Premium |
| PC | Pyruvate carboxylase deficiency | AR | Advanced Premium |
| PCCA | Propionic acidemia, PCCA-related | AR | Advanced Premium |
| PCCB | Propionic acidemia, PCCB-related | AR | Advanced Premium |
| PCDH15 | PCDH15-related sensory loss | AR | Advanced Premium |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | XL | Advanced Premium |
| PDHB | Pyruvate dehydrogenase E1-beta deficiency | AR | Advanced Premium |
| PEPD | Prolidase deficiency | AR | Advanced Premium |
| PET100 | Mitochondrial complex IV deficiency | AR | Advanced Premium |
| PEX1 | Zellweger syndrome, PEX1-related | AR | Advanced Premium |
| PEX10 | Zellweger syndrome, PEX10-related | AR | Advanced Premium |
| PEX12 | Zellweger syndrome, PEX12-related | AR | Advanced Premium |
| PEX2 | Zellweger syndrome, PEX2-related | AR | Advanced Premium |
| PEX6 | Zellweger syndrome, PEX6-related | AR | Advanced Premium |
| PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | AR | Advanced Premium |
| PFKM | Glycogen storage disease type VII | AR | Advanced Premium |
| PHGDH | Phosphoglycerate dehydrogenase deficiency | AR | Advanced Premium |
| PIGN | Multiple congenital anomalies hypotonia seizures syndrome 1 | AR | Advanced Premium |
| PKHD1 | Polycystic kidney disease, PKHD1-related | AR | Advanced Premium |
| PLA2G6 | Infantile neuroaxonal dystrophy | AR | Advanced Premium |
| PLOD1 | Ehlers-Danlos syndrome with kyphoscoliosis, PLOD1-related | AR | Advanced Premium |
| PMM2 | Congenital disorder of glycosylation type Ia (PMM2) | AR | Advanced Premium |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | AR | Advanced Premium |
| POLG | POLG-related disorders | AR | Advanced Premium |
| POLH | Xeroderma pigmentosum | AR | Advanced Premium |
| POMGNT1 | POMGNT1-related alpha-dystroglycanopathies | AR | Advanced Premium |
| POR | Antley-Bixler syndrome | AR | Advanced Premium |
| PPT1 | Neuronal ceroid lipofuscinosis, PPT1-related | AR | Advanced Premium |
| PREPL | Myasthenic syndrome, congenital, 22 | AR | Advanced Premium |
| PROP1 | Combined pituitary hormone deficiency 2 | AR | Advanced Premium |
| PRPS1 | PRPS1-related disorders | XL | Advanced Premium |
| PSAP | Metachromatic leukodystrophy due to saposin-B deficiency | AR | Advanced Premium |
| PTS | Tetrahydrobiopterin deficiency | AR | Advanced Premium |
| PUS1 | Mitochondrial myopathy and sideroblastic anemia 1 | AR | Advanced Premium |
| PYGM | Glycogen storage disease type V | AR | Advanced Premium |
| RAB23 | Carpenter syndrome | AR | Advanced Premium |
| RAG1 | Omenn syndrome, RAG1-related | AR | Advanced Premium |
| RAG2 | Omenn syndrome, RAG2-related | AR | Advanced Premium |
| RAPSN | RAPSN-associated acetylcholine receptor deficiency | AR | Advanced Premium |
| RARS2 | Pontocerebellar hypoplasia type 6 | AR | Advanced Premium |
| RDH12 | Leber congenital amaurosis type 13 | AR | Advanced Premium |
| RLBP1 | Retinal dystrophy, RLBP1-related | AR | Advanced Premium |
| RMRP | Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorder | AR | Advanced Premium |
| RNASEH2C | Aicardi-Goutières syndrome 4 | AR | Advanced Premium |
| RPE65 | RPE65-related retinopathy | AR | Advanced Premium |
| RPGRIP1L | RPGIRIP1L-related ciliopathies | AR | Advanced Premium |
| RS1 | Juvenile retinoschisis, X-linked | XL | Advanced Premium |
| RTEL1 | Dyskeratosis congenita type 5 | AR | Advanced Premium |
| SACS | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | AR | Advanced Premium |
| SAMD9 | Normophosphatemic Familial Tumoral Calcinosis | AR | Advanced Premium |
| SAMHD1 | Aicardi-Goutières syndrome 1 | AR | Advanced Premium |
| SBDS | Shwachman-Diamond syndrome | AR | Advanced Premium |
| SEPSECS | Pontocerebellar hypoplasia type 2D | AR | Advanced Premium |
| SERPINA1 | Alpha-1 antitrypsin deficiency | AR | Advanced Premium |
| SGCA | Limb-girdle muscular dystrophy, type 2D | AR | Advanced Premium |
| SGCB | Limb-girdle muscular dystrophy, type 2E | AR | Advanced Premium |
| SGCD | Limb-girdle muscular dystrophy, type 2F | AR | Advanced Premium |
| SGCG | Limb-girdle muscular dystrophy, type 2C | AR | Advanced Premium |
| SGSH | Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) | AR | Advanced Premium |
| SLC12A3 | Gitelman syndrome | AR | Advanced Premium |
| SLC12A6 | Andermann syndrome | AR | Advanced Premium |
| SLC17A5 | Sialic acid storage disorder | AR | Advanced Premium |
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome | AR | Advanced Premium |
| SLC22A5 | Systemic primary carnitine deficiency | AR | Advanced Premium |
| SLC24A5 | Oculocutaneous albinism type 6 | AR | Advanced Premium |
| SLC25A13 | Citrin deficiency | AR | Advanced Premium |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | AR | Advanced Premium |
| SLC25A20 | Carnitine-Acylcarnitine Translocase deficiency | AR | Advanced Premium |
| SLC26A2 | Segawa syndrome / SLC26A2-related disorders | AR | Advanced Premium |
| SLC26A3 | Congenital secretory chloride diarrhea | AR | Advanced Premium |
| SLC26A4 | Pendred syndrome | AR | Advanced Premium |
| SLC35A3 | Arthropyrosis, intellectual disability, and seizures | AR | Advanced Premium |
| SLC37A4 | Glycogen storage disease type Ib | AR | Advanced Premium |
| SLC39A4 | Acrodermatitis enteropathica | AR | Advanced Premium |
| SLC3A1 | Cystinuria | AR | Advanced Premium |
| SLC45A2 | Oculocutaneous albinism, type IV | AR | Advanced Premium |
| SLC4A11 | Corneal endothelial dystrophy | AR | Advanced Premium |
| SLC6A8 | Creatine deficiency syndrome, X-linked | XL | Advanced Premium |
| SLC7A7 | Lysinuric protein intolerance | AR | Advanced Premium |
| SLC7A9 | Cystinuria | AR | Advanced Premium |
| SMARCAL1 | Schimke immuno-osseous dysplasia | AR | Advanced Premium |
| SMN1 | Spinal muscular atrophy | AR | Advanced Premium |
| SMPD1 | Niemann-Pick disease, type A/B | AR | Advanced Premium |
| SRD5A2 | 5-alpha reductase deficiency | AR | Advanced Premium |
| ST3GAL5 | GM3 synthase deficiency | AR | Advanced Premium |
| STAR | Lipoid congenital adrenal hyperplasia | AR | Advanced Premium |
| STRC | Deafness, autosomal recessive 16 | AR | Advanced Premium |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR | Advanced Premium |
| SUMF1 | Multiple sulfatase deficiency | AR | Advanced Premium |