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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