TPMT Common Mutation Analysis
TEST CODE | MG00430 |
TEST NAME | TPMT Common Mutation Analysis |
RELATED GENE | TPMT (238G>C, 460G>A ,719A>G) |
SYNONYMOUS | TPMT (238G>C, 460G>A ,719A>G) |
OMIM | 187680 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Thiopurine S-methyltransferase deficiency (TPMT) is an autosomal recessive disease. Mutations in the TPMT gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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