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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