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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