Thiopurine Methyltransferase Testing – TPMT. Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy. Unable to load your delegates due to an error Accessed March 2013.(2013). TPMT Genotype. These side effects can be avoided if TPMT testing is done before starting thiopurine treatment.There are two ways to determine whether an individual is at risk of side effects from thiopurine therapy:This genetic test provides information about a person's likely response to thiopurines, but it will not measure how much TPMT enzyme is actually being made by the body.

For the genetic test (The tests for thiopurine methyltransferase (TPMT) enzyme activity or its underlying genetics are measured in people who are about to start treatment with a thiopurine drug. A pseudogene for this locus is located on chromosome 18q.

Individuals in both categories are at an increased risk for thiopurine drug toxicity, which can affect the activity of the bone marrow (myelosuppression) and lead to very reduced levels of blood cells, such as red blood cells, white blood cells and platelets (hematopoetic toxicity). 2000 Apr;14(4):567-72. doi: 10.1038/sj.leu.2401723.Li B, Brady SW, Ma X, Shen S, Zhang Y, Li Y, Szlachta K, Dong L, Liu Y, Yang F, Wang N, Flasch DA, Myers MA, Mulder HL, Ding L, Liu Y, Tian L, Hagiwara K, Xu K, Zhou X, Sioson E, Wang T, Yang L, Zhao J, Zhang H, Shao Y, Sun H, Sun L, Cai J, Sun HY, Lin TN, Du L, Li H, Rusch M, Edmonson MN, Easton J, Zhu X, Zhang J, Cheng C, Raphael BJ, Tang J, Downing JR, Alexandrov LB, Zhou BS, Pui CH, Yang JJ, Zhang J.Blood. Most people fall into this category and can be treated with a standard dose. Accessed on 3/19/17.Dr.

Thiopurine Methyltransferase, Red Blood Cell. Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk. Available online at All Rights Reserved. You should consult with your healthcare practitioner about which one best fits your individual situation. A genetic test to detect genetic variations in the TPMT gene will help determine TPMT activity and risk for side effects from low TPMT activity. One or the other of these tests is used to identify individuals at risk of developing severe side effects from thiopurine therapy, such as suppression of the bone marrow that leads to reduced numbers of red blood cells, white blood cells and platelets.Thiopurines such as azathioprine, mercaptopurine, and thioguanine are drugs that are prescribed for diseases such as acute lymphoblastic leukemia (ALL), inflammatory bowel disease, and autoimmune disorders. (2015 October 21 Updated). (© 1995–2017). There can be significant person-to-person and ethnic variability in TPMT production, even in people with the same gene variations.A third, different kind of test may be used after thiopurine treatment begins.
thiopurine S-methyltransferase deficiency. The activity level of the TPMT enzyme, or the genetics underlying the enzyme's activity, is tested before thiopurine drug therapy to make sure that individuals treated with the drugs can metabolize them.Examples of thiopurines include azathioprine, mercaptopurine, and thioguanine. Mayo Clinic Mayo Medical Laboratories. Evidence on Genomic Tests. al (2008 December 17). ARUP Laboratories Technical Bulletin [On-line information].

Available online at Atypon American Childhood Cancer Organization. Available online at
Measuring the metabolites is another way to ensure that toxic levels do not build up in the blood. For more on this, see Common Questions below.For both genetic and enzyme activity testing, a blood sample is taken by needle from a vein in the arm. al. This can lead to complications such as anemia, serious infections, and/or excessive bleeding.These side effects can cause an individual to become severely ill and may even be life-threatening. Available online at (2015 April Reviewed). Jonathon Berg. [On-line information]. (© 1995–2017). Available online at These medications are used to treat diseases such as acute lymphoblastic leukemia, inflammatory bowel disease, and autoimmune disorders. 2004 Jul;41(Pt 4):294-302. doi: 10.1258/0004563041201455.Leukemia. Thiopurines in Inflammatory Bowel Disease. Because azathioprine is a prodrug for MP, the two drugs can be considered to have identical interactions with TPMT; that is, TPMT catabolizes MP to inactive methylMP, leaving less parent drug available for eventual anabolism to active TGNs (Figure 1). al. To assess thiopurine S-methyltransferase (TPMT) phenotype and genotype in patients who were intolerant to treatment with mercaptopurine (MP) or azathioprine (AZA), and … Epub 2011 Feb 11.Ann Clin Biochem. ARUP Laboratories. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.Nguyen et al. PLoS Currents.

A pseudogene for this locus is located on chromosome 18q. Genetics Home Reference.

Accessed on 1/4/09.Ansari, (2006 September 26). ARUP Consult.

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