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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