Van Der Knaap Disease MLC2 Type

TEST CODE MG05330
TEST NAME Van Der Knaap Disease MLC2 Type
RELATED GENE MYL9 (MLC2)
SYNONYMOUS MYL9 (MLC2)
OMIM 609905
HEREDITY Autosomal Recessive
CLINICAL AREA Van Der Knaap Disease MLC2 Type is an autosomal recessive disease. Mutations in the MYL9 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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