MLPA
TEST CODE | MG02510 |
TEST NAME | MLPA |
RELATED GENE | MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 |
SYNONYMOUS | MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 |
OMIM | 176270 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Prader Willi Syndrome is an autosomal dominantly inherited disease. Mutations in the 15q11-13 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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