Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis – ONCO

Overview
Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis is a molecular genetic test used to identify clinically relevant variants in the DPYD gene, which encodes the DPD enzyme responsible for the breakdown of fluoropyrimidine medicines such as 5-Fluorouracil (5-FU) and Capecitabine.

Clinical Significance
Reduced DPD activity due to certain DPYD variants can increase exposure to fluoropyrimidine drugs and may significantly raise the risk of severe or life-threatening toxicity. Identifying relevant variants before treatment can support personalized oncology care and treatment planning.

Indications

• Before initiating 5-FU or Capecitabine therapy
• Assessment of suspected fluoropyrimidine intolerance
• Patients with unexplained severe toxicity during treatment
• Pharmacogenomic evaluation for cancer therapy

Test Method
Molecular genetic analysis of the DPYD gene to detect clinically significant mutations/variants.

Sample
Peripheral blood in an appropriate EDTA blood collection tube.

Result Interpretation
Results should be interpreted along with the patient's clinical history, treatment plan, and relevant pharmacogenomic guidelines. Detection of a clinically significant DPYD variant may indicate an increased risk of fluoropyrimidine toxicity and may require consideration of dose adjustment or alternative therapy by the treating oncologist.

Important Note
A negative result does not completely eliminate the possibility of fluoropyrimidine-related toxicity, as not all genetic or non-genetic factors contributing to drug response are detected by every assay. Clinical decisions should be made by the treating physician.