Congenital Muscular Dystrophy

TEST CODE MG01640
TEST NAME Congenital Muscular Dystrophy
RELATED GENE LAMA2
SYNONYMOUS LAMA2
OMIM 607855
HEREDITY Autosomal Recessive
CLINICAL AREA Congenital Muscular Dystrophy (MDC1A) is an Autosomal Recessively inherited disease. Mutations in the LAMA2 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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