LAMA3 Deletion Duplication Analysis

TEST CODE MG09670
TEST NAME LAMA3 Deletion Duplication Analysis
RELATED GENE LAMA3,LAMC2,LAMB3,KRT14
SYNONYMOUS LAMA3,LAMC2,LAMB3,KRT14
OMIM 600805
HEREDITY Autosomal Recessive
CLINICAL AREA Epidermolysis bullosa is an autosomal recessively inherited disease. Mutations in the LAMA3 gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method.
METHOD MLPA
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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