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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