Retinoblastoma RB1 MLPA
TEST CODE | MG03300 |
TEST NAME | Retinoblastoma RB1 MLPA |
RELATED GENE | RB1,ENOX1,ITM2B,RCBTB1,DLEU1,PCDH8,SLC9A2 |
SYNONYMOUS | RB1,ENOX1,ITM2B,RCBTB1,DLEU1,PCDH8,SLC9A2 |
OMIM | 180200 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Retinoblastoma is an autosomal dominantly inherited disease. Mutations in the RB1 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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