TPMT Mutation Detection Kit

TPMT Mutation Detection Kit Overview

The 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

Why TPMT Testing Is Important

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 among
individuals 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 or
absent 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

Key Features of the TPMT Mutation Detection Kit:

CE-IVD
The TPMT Kit allows highly sensitive and specific diagnosis of TPMT Mutations in a single run.
The kit offers sensitivity to detect as low as 10ng of DNA
Sample Type – Human genomic DNA, extracted from whole blood/bone marrow/FFPE tissue
Our TPMT Kit is an all-inclusive solution – The Assay includes all the PCR components including PCR Pre-mix/mastermix for optimized results.
Positive control is included in the kit for reliable results.
Compatible Instruments – QuantStudio® series, Bio-Rad CFX96. For other compatible machines please contact us