Detection of TPMT gene mutations

Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyzes S-methylation (inactivation) of thiopurine drugs such as anti-cancer (6-mercaptopurine and 6-thioguanine) and immunosuppressive (azatioprine) drugs. Reduced activity of TPMT enzyme is associated with serious hematopoietic toxicity when standard doses of thiopurine drug are given. There are several mutations in TPMT gene that cause reduced TPMT enzyme activity. Thiopurine drug dosage should be adjusted to the genotype of each patient in order to avoid drug related toxicities.

Matherial for detection of TPMT mutatons is obtained by DNA extraction from peripheral blood. Three most frequent TPMT gene mutations are detected by PCR-RFLP method: c.238 G>C, c.460 G>A and c.719 A>G.

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant in vol/vol ratio 1:9. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

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  • dr Nikola Kotur
  • dr Branka Zukić
  • dr Sonja Pavlović

Tel: +381 11 3976 445
Mob: +381 65 3976 445
Fax: +381 11 3975 808

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