Pontocerebellar Hypoplasia Type 1B
| TEST CODE | MG09580 |
| TEST NAME | Pontocerebellar Hypoplasia Type 1B |
| RELATED GENE | EXOSC3 |
| SYNONYMOUS | EXOSC3 |
| OMIM | 614678 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Pontocerebellar Hypoplasia Type 1B is an autosomal recessively inherited disease. Mutations in the EXOSC3 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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