TPMT and NUDT15 Gene Analysis in New Delhi

TPMT (thiopurine S-methyltransferase) and NUDT15 (nudix hydrolase 15) gene analysis play a crucial role in personalized medicine, particularly in the field of cancer pharmacogenomics.

The role of NUDT15 is to metabolize thiopurine drugs with an increased risk of thiopurine-related leukopenia, neutropenia, and myelosuppression. Thiopurine drugs such as mercaptopurine (6-MP), azathioprine (AZA), and thioguanine (6-TG) are used to treat patients with hematologic cancers, autoimmune disease, and post-transplant organ rejection.

Patients with inherited deficiencies in TPMT and NUDT15 enzyme activity, who are treated with full doses of thiopurines are subject to toxicity with effects including acute myelosuppression, liver toxicity, pancreatitis, and flu-like symptoms. Testing for mutation status of TPMT and NUDT15 genes before initiating thiopurine therapy is recommended for dose management of the drug. About 3.5% of Indians show variations in the TPMT gene as compared to 19.4% variations observed in NUDT15, which makes the latter a more reliable disease marker. Similarly, analysis of the NUDT15 gene is critical for predicting patient response to thiopurine drugs, as NUDT15 variants are associated with an increased risk of severe myelosuppression. Accurate genotyping of TPMT and NUDT15 genes will allow physicians to tailor drug treatment, minimize adverse effects, and improve therapeutic outcomes. Incorporating these genetic tests into clinical practice enables more personalized and precise medicine that optimizes patient care and safety.

Note: Genetic counseling can be provided. If interested, please send the request to this email id:[email protected]