DPYD (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-FU and capecitabine drug metabolism), gene analysis, common variant(s) (eg, *2A, *4, *5, *6)
CPT4 code
Name of the Procedure:
DPYD (Dihydropyrimidine Dehydrogenase) Gene Analysis for 5-Fluorouracil (5-FU) and Capecitabine Metabolism
Summary
DPYD gene analysis is a genetic test that determines the presence of specific variants in the DPYD gene. This gene plays a key role in breaking down certain chemotherapy drugs like 5-fluorouracil (5-FU) and capecitabine. Identifying these variants helps in tailoring cancer treatment to improve its safety and effectiveness.
Purpose
This genetic test aims to identify individuals who might have a reduced ability to metabolize 5-FU and capecitabine due to specific variants in the DPYD gene. By doing so, it helps in preventing severe side effects from these chemotherapy drugs and assists healthcare providers in adjusting dosages or selecting safer alternatives.
Indications
- Patients scheduled to undergo chemotherapy with 5-FU or capecitabine.
- Individuals with a family history of toxicity to these drugs.
- Cases where unexplained severe reactions to these treatments have occurred.
Preparation
- No special preparation such as fasting is typically required.
- Patients may need to provide a blood sample or a cheek swab.
- Inform the healthcare provider of any medications or supplements being taken.
Procedure Description
- Sample Collection: A blood sample is drawn from a vein in your arm or a cheek swab is taken.
- DNA Extraction: The sample is processed to extract DNA.
- Gene Analysis: Techniques like PCR (Polymerase Chain Reaction) are used to detect common DPYD gene variants (*2A, *4, *5, *6).
- Results Interpretation: A geneticist or specialized lab technician will analyze the results and report the findings.
Duration
The sample collection takes about 5-10 minutes. Lab analysis and result reporting may take several days to a few weeks.
Setting
The sample is usually collected in a clinic, doctor's office, or hospital lab setting and then analyzed in a specialized laboratory.
Personnel
- Phlebotomist or nurse for blood sample collection.
- Laboratory technicians and geneticists for analyzing the gene variants.
- Oncologists and pharmacists for interpreting the results and planning treatment.
Risks and Complications
- Bruising or slight discomfort at the site of blood draw.
- Very rare cases of infection.
Benefits
- Tailored chemotherapy treatment plans to reduce the risk of severe side effects.
- Improved safety and effectiveness of cancer treatment.
- Informed decision-making for other treatment options if necessary.
Recovery
- No specific recovery time is needed.
- Patients can resume normal activities immediately after the sample collection.
- Follow-up with the healthcare provider to discuss results and treatment adjustments.
Alternatives
- Empirical dose adjustments and monitoring during chemotherapy.
- Use of alternative cancer treatments that do not involve 5-FU or capecitabine.
- Pros of the alternatives may include avoiding genetic testing costs; cons include the risk of unmanaged severe side effects.
Patient Experience
- Minimal discomfort during the blood draw or cheek swab.
- Anxiety while waiting for results is common but manageable with proper communication from healthcare providers.
- Understanding potential results might ease concerns and assist in proactive health management.