Pontocerebellar Hypoplasia type 2F
| TEST CODE | MG10370 |
| TEST NAME | Pontocerebellar Hypoplasia type 2F |
| RELATED GENE | TSEN15 |
| SYNONYMOUS | TSEN15 |
| OMIM | 617026 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Pontocerebellar Hypoplasia Type 2F is an autosomal recessively inherited disease. Mutations in the TSEN15 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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