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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