Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis

Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis

Test 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 metabolizing fluoropyrimidine drugs such as 5-Fluorouracil (5-FU), Capecitabine, and Tegafur.

Clinical Significance:
DPYD variants can reduce DPD enzyme activity and increase the risk of severe or life-threatening toxicity from fluoropyrimidine chemotherapy. Genetic testing can help identify patients who may require dose adjustment or alternative treatment.

Indications:

• Before initiating fluoropyrimidine-based chemotherapy
• Assessment of suspected DPD deficiency
• Patients with unexpected severe toxicity to 5-FU or related drugs
• Personalized oncology treatment planning

Sample: Peripheral blood / EDTA whole blood
Method: Molecular genetic analysis
Report: Detected variants are interpreted according to established clinical guidelines.

Important: A normal result does not completely exclude all forms of DPD deficiency or fluoropyrimidine toxicity. Treatment decisions should be made by the treating oncologist in conjunction with the genetic test result.