Complete lists of genes included in our Advanced 500 and Premium 787 panels
| Gene | Condition | Inheritance | Panel |
|---|---|---|---|
| SCO2 | Mitochondrial complex IV deficiency | AR | Premium |
| SEC23B | Congenital dyserythropoietic anemia, type II | AR | 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 |
| SIAT9 | Salt and pepper developmental regression syndrome | AR | Premium |
| SKIV2L | Trichothiodystrophy syndrome 2 | AR | Premium |
| SLC12A1 | Bartter syndrome | AR | 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 |
| SLC19A3 | Biotin-responsive basal ganglia disease | AR | Premium |
| SLC1A4 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly syndrome | AR | 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 |
| SLC27A4 | Ichthyosis prematurity syndrome | AR | Premium |
| SLC35A3 | Arthropyrosis, intellectual disability, and seizures | AR | Advanced Premium |
| SLC37A4 | Glycogen storage disease type Ib | AR | Advanced Premium |
| SLC38A8 | Foveal hypoplasia (SLC38A8-related) | AR | 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 |
| SLC5A5 | Thyroid dyshormonogenesis, SLC5A5-related | AR | 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 |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR | Premium |
| SPG11 | SPG11-related Neuromuscular Disorders | AR | Premium |
| SPR | Sepiapterin Reductase Deficiency | AR | 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 |
| STX11 | Familial hemophagocytic lymphohistiocytosis type 3 | AR | Premium |
| STXBP2 | Familial hemophagocytic lymphohistiocytosis type 4 | AR | Premium |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR | Advanced Premium |
| SUMF1 | Multiple sulfatase deficiency | AR | Advanced Premium |
| SUOX | Sulfite oxidase deficiency | AR | Premium |
| SURF1 | Leigh syndrome, SURF1-related | AR | Advanced Premium |
| SYNE4 | Autosomal recessive deafness 76 | AR | Premium |
| TAFAZZIN | Barth syndrome | XL | Advanced Premium |
| TANGO2 | Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration | AR | Premium |
| TAT | Tyrosinemia type II | AR | Advanced Premium |
| TAZ | Barth syndrome | XL | Premium |
| TBC1D24 | Doors syndrome | AR | Advanced Premium |
| TBCD | Progressive early-onset encephalopathy with brain atrophy and thin corpus callosum | AR | Premium |
| TBCE | Hypoparathyroidism-retardation-dysmorphism syndrome | AR | Premium |
| TCIRG1 | Osteopetrosis, TCIRG1-related | AR | Advanced Premium |
| TCN2 | Transcobalamin II deficiency | AR | Premium |
| TECPR2 | Spastic paraplegia 49 | AR | Advanced Premium |
| TERT | Dyskeratosis congenita type 4 | AR | Premium |
| TF | Atransferrinemia | AR | Premium |
| TFR2 | Hemochromatosis, type 3 | AR | Advanced Premium |
| TG | Thyroid dyshormonogenesis, TG-related | AR | Premium |
| TGM1 | Congenital ichthyosis | AR | Advanced Premium |
| TH | Tyrosine hydroxylase deficiency | AR | Advanced Premium |
| TK2 | Mitochondrial DNA depletion syndrome 2 | AR | Premium |
| TMC1 | Nonsyndromic hearing loss 7 | AR | Advanced Premium |
| TMEM216 | TMEM216-related ciliopathies | AR | Advanced Premium |
| TMEM67 | COACH syndrome | AR | Premium |
| TMPRSS3 | Nonsyndromic hearing loss, TMPRSS3-related | AR | Premium |
| TNXB | Ehlers-danlos syndrome | AR | Advanced Premium |
| TPO | Thyroid dyshormonogenesis, TPO-related | AR | Advanced Premium |
| TPP1 | Neuronal ceroid lipofuscinosis, TPP1-related | AR | Advanced Premium |
| TREX1 | Aicardi-Goutières syndrome 3 | AR | Advanced Premium |
| TRIM32 | TRIM32-related disorders | AR | Advanced Premium |
| TRIM37 | Mulibrey nanism | AR | Advanced Premium |
| TRMU | Liver failure, acute infantile | AR | Advanced Premium |
| TSEN54 | Pontocerebellar hypoplasia type 2A | AR | Advanced Premium |
| TSFM | Combined oxidative phosphorylation deficiency, TSFM-related | AR | Advanced Premium |
| TSHB | Congenital hypothyroidism, TSHB-related | AR | Advanced Premium |
| TSHR | Congenital hypothyroidism, TSHR-related | AR | Advanced Premium |
| TTC37 | Trichothiodystrophy syndrome | AR | Premium |
| TTN | Familial dilated cardiomyopathy | AR | Advanced Premium |
| TTPA | Ataxia with Vitamin E Deficiency | AR | Advanced Premium |
| TULP1 | TULP1-related retinal disorders | AR | Premium |
| TYMP | Mitochondrial neurogastrointestinal encephalopathy disease | AR | Advanced Premium |
| TYR | Oculocutaneous albinism types 1A and 1B | AR | Advanced Premium |
| TYRP1 | Oculocutaneous albinism, type III | AR | Advanced Premium |
| UBR1 | Johanson-Blizzard syndrome | AR | Premium |
| UGT1A1 | Crigler-Najjar Syndrome | AR | Advanced Premium |
| UPB1 | Beta-ureidopropionase deficiency | AR | Advanced Premium |
| USH1C | USH1C-related disorders | AR | Advanced Premium |
| USH2A | Usher syndrome, type 2A | AR | Advanced Premium |
| VDR | Vitamin D-dependent rickets, type 2A | AR | Premium |