Limb Girdle Muscular Dystrophy Type 2A

TEST CODE MG03290
TEST NAME Limb Girdle Muscular Dystrophy Type 2A
RELATED GENE CAPN3
SYNONYMOUS CAPN3
OMIM 253600
HEREDITY Autosomal Recessive
CLINICAL AREA Limb Girdle Muscular Dystrophy Type 2A is an Autosomal Recessively inherited disease. Mutations in the CAPN3 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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