Pontocerebellar Hypoplasia Type 10
TEST CODE | MG08300 |
TEST NAME | Pontocerebellar Hypoplasia Type 10 |
RELATED GENE | CLP1 |
SYNONYMOUS | CLP1 |
OMIM | 608757 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Pontocerebellar Hypoplasia Type 10 is an Autosomal Recessively inherited disease. Mutations in the CLP1 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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