Genetic analysis for DPYD gene variants (exome sequencing)

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a history of severe side effects like skin rashes, diarrhea, or other reactions when taking certain chemotherapy drugs (e.g., fluoropyrimidines like 5-FU). It may also be used if you have symptoms linked to rare genetic disorders like hereditary sensitivity to fluoropyrimidines.

What the Test Involves

You’ll provide a blood sample (whole blood) for genetic testing. The lab analyzes your DNA to look for known mutations in the DPYD gene that could impact how your body processes medications or cause health issues.

What the Results Mean

Results may indicate normal gene function, a known mutation linked to medication sensitivity, or variants that require further evaluation. Some mutations may increase risk for side effects, while others may not have clear clinical implications.

Common Uses and Considerations

This test is primarily used to guide treatment decisions for chemotherapy or other medications that rely on DPYD metabolism. It’s not a routine screening test for the general population but may be part of a personalized medicine approach.