DPYD Mutation Analysis near me in Mumbai

The DPYD Mutation Analysis test is a genetic test that detects specific mutations in the DPYD gene, which encodes the Dihydropyrimidine Dehydrogenase (DPD) enzyme. This enzyme plays a crucial role in the breakdown of pyrimidines, including many commonly prescribed anticancer medicines such as 5-Fluorouracil (5-FU) and Capecitabine. In the liver, DPD helps metabolize these medicines and regulate the levels of their active metabolites in the body.

If mutations are present in the DPYD gene, DPD enzyme activity may be reduced or completely absent. As a result, patients with DPD deficiency are unable to effectively break down fluoropyrimidine medicines, causing toxic accumulation. Extensive clinical studies have shown that 40–60% of cancer patients with DPD deficiency experience severe or life-threatening side effects when treated with standard doses of 5-FU. These can include bone marrow suppression, mucositis (mouth ulcers), diarrhea, neurotoxicity, and, in rare cases, life-threatening toxicity.

Identifying DPD deficiency through targeted gene sequencing allows doctors to predict potential drug-related toxicity before treatment begins. Based on the test results, the doctor may adjust the chemotherapy dose, enhance monitoring, or choose an alternative drug, ensuring effective and safer cancer therapy.

Doctors may recommend this test for individuals who are:

• About to start treatment with 5-FU or Capecitabine
• Experiencing unexpected or severe side effects during fluoropyrimidine chemotherapy
• Having a family history of DPD deficiency or chemotherapy-related toxicity

For this test, it is important to submit the clinical history, histopathology report, previous test results, and a doctor’s prescription at the time of sample collection. The Tata 1mg consolidated Test Requisition Form (TRF) must also be duly filled and submitted. Consent form to be filled in case of minors.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for a proper understanding of the test results.

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