SuccinylCoA:3-oxoacid CoAtransferase deficiency, SCOT
| TEST CODE | MG09950 |
| TEST NAME | SuccinylCoA:3-oxoacid CoAtransferase deficiency, SCOT |
| RELATED GENE | SCOT (OXCT1) |
| SYNONYMOUS | SCOT (OXCT1) |
| OMIM | 245050 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | SuccinylCoA:3-oxoacid CoAtransferase deficiency is an autosomal recessively inherited disease. Mutations in the SCOT (OXCT1) gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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