McCune-Albright Syndrome

TEST CODE MG08320
TEST NAME McCune-Albright Syndrome
RELATED GENE GNAS,STX16,NESP55,GNASXL,TH1L,SLC9A2
SYNONYMOUS GNAS,STX16,NESP55,GNASXL,TH1L,SLC9A2
OMIM 174800
HEREDITY Somatic
CLINICAL AREA Mc-Cune Albright Syndrome is an autosomal somatically inherited disease. Mutations in the GNAS 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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