CASQ1 Aggregated Myopathy
TEST CODE | MG07870 |
TEST NAME | CASQ1 Aggregated Myopathy |
RELATED GENE | CASQ |
SYNONYMOUS | CASQ |
OMIM | 114250 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | CASQ1 Aggregate Myopathy is an autosomal dominantly inherited disease. Mutations in the CASQ 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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