Nonaka Myopathy

TEST CODE MG08090
TEST NAME Nonaka Myopathy
RELATED GENE GNE
SYNONYMOUS GNE
OMIM 605820
HEREDITY Autosomal Recessive
CLINICAL AREA Nonaka Myopathy is an Autosomal Recessively inherited disease. Mutations in the GNE 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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