Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| NEB | Nemaline myopathy | AR | Advanced Premium |
| NEU1 | Sialidosis, type I and II | AR | Advanced Premium |
| NGLY1 | Congenital disorder of glycosylation, type Ia (NGLY1) | AR | 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 |
| 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 |
| NSMCE3 | NSMCE3 deficiency | AR | 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 |
| OSTM1 | Osteopetrosis 5 | AR | Premium |
| OTC | Ornithine transcarbamylase deficiency | XL | Advanced Premium |
| OTOA | Nonsyndromic deafness (OTOA-related) | AR | Premium |
| OTOF | Nonsyndromic hearing loss, OTOF-related | AR | Advanced Premium |
| P3H1 | Osteogenesis imperfecta, type VIII | AR | Premium |
| PAH | Phenylalanine Hydroxylase deficiency (Phenylketonuria) | AR | Advanced Premium |
| PANK2 | Pantothenate kinase-associated neurodegeneration | AR | Advanced Premium |
| PC | Pyruvate carboxylase deficiency | AR | Advanced Premium |
| PCBD1 | Tetrahydrobiopterin deficiency, PCBD1-related | AR | 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 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II | AR | 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 |
| PEX13 | Zellweger spectrum disorder | AR | Premium |
| PEX16 | Zellweger spectrum disorder | AR | Premium |
| PEX2 | Zellweger syndrome, PEX2-related | AR | Advanced Premium |
| PEX26 | Zellweger syndrome | AR | Premium |
| PEX5 | Zellweger spectrum disorder | AR | 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 |
| PGM3 | Immunodeficiency 23 | AR | Premium |
| PHGDH | Phosphoglycerate dehydrogenase deficiency | AR | Advanced Premium |
| PHKB | Glycogen storage disease type VIb | AR | Premium |
| PHKG2 | Glycogen storage disease type VIc | AR | Premium |
| PHYH | Refsum disease | AR | Premium |
| PIGN | Multiple congenital anomalies hypotonia seizures syndrome 1 | AR | Advanced Premium |
| PJVK | Nonsyndromic hearing loss 59 | AR | 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 |
| PLP1 | PLP1-related disorders | XL | 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 |
| POMT1 | Dystroglycanopathy, POMT1-related | AR | Premium |
| POMT2 | Muscular dystrophy-dystroglycanopathy, POMT2-related | AR | Premium |
| POR | Antley-Bixler syndrome | AR | Advanced Premium |
| POU1F1 | Combined pituitary hormone deficiency | AR | Premium |
| PPT1 | Neuronal ceroid lipofuscinosis, PPT1-related | AR | Advanced Premium |
| PRCD | Retinitis pigmentosa 36 | AR | Premium |
| PRDM5 | Brittle cornea syndrome 2 | AR | Premium |
| PREPL | Myasthenic syndrome, congenital, 22 | AR | Advanced Premium |
| PRF1 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR | 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 |
| PTIPRC | PTIPRC-related severe combined immunodeficiency | AR | 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 |
| QDPR | Tetrahydrobiopterin deficiency, QDPR-related | AR | 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 |
| RNASEH2B | Aicardi-Goutières syndrome 2 | AR | Premium |
| RNASEH2C | Aicardi-Goutières syndrome 4 | AR | Advanced Premium |
| RP2 | X-linked Retinitis pigmentosa, RP2-related | XL | 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 |
| RXYLT1 | Muscular dystrophy-dystroglycanopathy (RXYLT1-related) | AR | Premium |
| RYR1 | RYR1-related conditions | AR | 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 |