Limb - Girdle Muscular Dystrophy, Autosomal Type 1E

TEST CODE MG06370
TEST NAME Limb – Girdle Muscular Dystrophy, Autosomal Type 1E
RELATED GENE DNAJB6
SYNONYMOUS DNAJB6
OMIM 603511
HEREDITY Autosomal Dominant
CLINICAL AREA Limb-Girdle Muscular Dystrophy Type 1E is an autosomal dominantly inherited disease. Mutations in the DNAJB6 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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