LAMB3 Delesyon Duplikasyon Analizi

TEST CODE MG09720
TEST NAME LAMB3 Delesyon Duplikasyon Analizi
RELATED GENE LAMA3,LAMC2,LAMB3,KRT14
SYNONYMOUS LAMA3,LAMC2,LAMB3,KRT14
OMIM 150310
HEREDITY Autosomal Recessive / Autosomal Dominant
CLINICAL AREA Epidermolysis bullosa is an autosomal recessive and dominantly inherited disease. Mutations in the LAMB3 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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