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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