Van Der Knaap Disease MLC3 Type

TEST CODE MG05340
TEST NAME Van Der Knaap Disease MLC3 Type
RELATED GENE MYL1 (MLC2)
SYNONYMOUS MYL1 (MLC2)
OMIM 160780
HEREDITY Autosomal Recessive
CLINICAL AREA Van Der Knaap Disease MLC3 Type is an autosomal recessive disease. Mutations in the MYL1 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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