Proximal myopathy and ophthalmoplegia

TEST CODE MG10580
TEST NAME Proximal myopathy and ophthalmoplegia
RELATED GENE MYH2
SYNONYMOUS MYH2
OMIM 605637
HEREDITY Autosomal Recessive / Autosomal Dominant
CLINICAL AREA Proximal myopathy and ophthalmoplegia is a disease inherited as Autosomal Recessive and Autosomal Dominant. Mutations in the MYH2 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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