Thiopurine S-Methyltransferase Deficiency – TPMT
Thiopurine drugs such as 6-mercaptopurine and azathioprine are used as chemotherapeutic agents and their active metabolites have both immunosuppressive as well as antiproliferative effects. Thiopurine S-methyltransferase (TPMT) is an enzyme that catalyzes the S-methylation of thiopurine-type compounds and mediates the formation of inactive metabolites. Genetic polymorphisms that affect this enzymatic activity can result in life-threatening toxicity. Drug-induced bone marrow toxicity may cause myelosuppression, anemia, bleeding tendency, leukopenia, and infection.
There are three main genetic changes in the TPMT gene that determine metabolization efficiency of the thiopurines (rs1800462, rs1800460, and rs16880254) in 80-95% of cases.
The genetic test developed by Asper Biotech determines whether or not the person has these genetic changes in the TPMT gene. It gives valuable information concerning the activity of the TPMT enzyme and makes it possible to choose an individual’s optimal dose before starting treatment. In principal, this test should be done for all patients who are undergoing treatment with thiopurine drugs.
The test is available with diagnostic package service (includes DNA extraction, genotyping, interpretation, hard copy of the results report).
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Thiopurine S-Methyltransferase Deficiency (TPMT) - read more
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