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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