NGO11MLPA
TEST CODE | MG03320 |
TEST NAME | NGO11MLPA |
RELATED GENE | STK11,CDC34,ELANE,KISS1R,KCNQ2,SHANK3 |
SYNONYMOUS | STK11,CDC34,ELANE,KISS1R,KCNQ2,SHANK3 |
OMIM | 175200 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Peutz-Jeghers syndrome is an autosomal dominantly inherited disease. Mutations in the STK11 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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