Lafora Disease

TEST CODE MG01690
TEST NAME Lafora Disease
RELATED GENE NHLRC1
SYNONYMOUS NHLRC1
OMIM 254780
HEREDITY Autosomal Recessive
CLINICAL AREA Lafora Disease is an Autosomal Recessively inherited disease. Mutations in the NHLRC1 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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