Dystonia Type 6 - THAP1
TEST CODE | MG03350 |
TEST NAME | Dystonia Type 6 – THAP1 |
RELATED GENE | THAP1 |
SYNONYMOUS | THAP1 |
OMIM | 602629 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Dystonia Type 6 is an Autosomal Dominant inherited disease. Mutations in the THAP1 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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