TRUPCR® TPMT Mutation Detection Kit

The TRUPCR® TPMT Mutation Detection Kit is an in vitro diagnostic test intended for the qualitative detection of four clinically relevant single nucleotide polymorphisms (SNPs) ; c.238G>C, c.460G>A, c.626-1G>A and c.719A>G (NM_000367.2) in Thiopurine S-methyltransferase (TPMT) gene from human genomic DNA, extracted from whole blood/bone marrow/FFPE. These SNPs are known to result in loss/reduced activity of this enzyme resulting in toxicity of thiopurine drugs such as 6-mercaptopurine, 6-thioguanine and azathioprine used for treating leukaemia and/or irritable bowel syndrome Thiopurine methyltransferase (TPMT) is an enzyme crucial for metabolizing thiopurine drugs such as azathioprine, mercaptopurine, and thioguanine. These drugs are widely used to treat leukaemia, inflammatory bowel disease (IBD), and autoimmune disorders. TPMT activity varies amongindividuals due to genetic differences, which significantly affects how these drugs are processed in the body. People with normal TPMT activity can typically tolerate standard doses, while those with intermediate activity may need dose adjustments to avoid side effects. Individuals with low orabsent TPMT activity are at high risk for severe myelosuppression and require much lower doses or alternative treatments. Testing for TPMT activity before starting thiopurine therapy is recommended to personalize treatment and minimize the risk of adverse effects, making TPMT testing a key component of personalized medicine