Emery Dreifus Muscular Dystrophy Type 6

TEST CODE MG05140
TEST NAME Emery Dreifus Muscular Dystrophy Type 6
RELATED GENE FHL1
SYNONYMOUS FHL1
OMIM 300696
HEREDITY X-linked Recessive
CLINICAL AREA Emery Dreifus Muscular Dystrophy Type 6 is an X-linked Recessively inherited disease. Mutations in the FHL1 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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