Skip to main content
Public beta This website is in public beta – please give your feedback.

Example clinical scenario

A 64-year-old man has been diagnosed with colon cancer and is due to start adjuvant chemotherapy containing 5-fluorouracil. Before starting his treatment, you plan to undertake testing for variants in the DPYD gene.

When to consider genomic testing

  • All patients should have pharmacogenomic testing for partial or complete DPD deficiency before initiation of intravenous 5-fluorouracil, oral capecitabine or tegafur therapy.

What do you need to do?

  • Consult the National Genomic Test Directory for cancer. From here, you can access information about individual tests and their associated eligibility criteria.
  • For this indication, the appropriate test to choose is:
    • M1.7 DPYD hotspot for the DPYD gene. This involves simple targeted DPYD variant testing. (Always check the latest test directory to ensure the test code is correct.)
  • For DNA-based tests, an EDTA sample is required.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.
↑ Back to top
  • Last reviewed: 02/08/2023
  • Next review due: 02/08/2024
  • Authors: Dr Azara Janmohamed, Dr Spoorthy Kulkarni
  • Reviewers: Dr Charlotte Barker