Limb Girdle Muscular Dystrophy Type 1C

TEST CODE MG03340
TEST NAME Limb Girdle Muscular Dystrophy Type 1C
RELATED GENE POMT1
SYNONYMOUS POMT1
OMIM 609308
HEREDITY Autosomal Recessive
CLINICAL AREA Limb Girdle Muscular Dystrophy Type 1C is an Autosomal Recessively inherited disease. Mutations in the POMT1 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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