Centronuclear Myopathy

TEST CODE MG04350
TEST NAME Centronuclear Myopathy
RELATED GENE MTM1
SYNONYMOUS MTM1
OMIM 310400
HEREDITY X-linked Recessive
CLINICAL AREA Centronuclear Myopathy is an X-linked Recessively inherited disease. Mutations in the MTM1 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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