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DIHYDROPYRIMIDINE DEHYDROGENASE (DPD) GENE MUTATION ANALYSIS
Genetic
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Genetic test for DPYD mutation.
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Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis
- Why is it done?
- Test Purpose: This test detects mutations or deficiencies in the DPYD gene, which encodes the dihydropyrimidine dehydrogenase enzyme. This enzyme is crucial for metabolizing fluoropyrimidine chemotherapy drugs such as fluorouracil (5-FU) and capecitabine.
- Primary Indications: Pre-treatment screening before administering 5-fluorouracil or capecitabine; identification of patients at high risk for severe toxicity; pharmacogenomic assessment for cancer patients requiring fluoropyrimidine therapy.
- Clinical Scenarios: Patients diagnosed with colorectal cancer, gastric cancer, breast cancer, or other malignancies planned for fluoropyrimidine chemotherapy; patients with personal or family history of severe chemotherapy toxicity; evaluation of unexplained severe adverse reactions to 5-FU or capecitabine.
- Normal Range
- Result Interpretation Categories: Normal/Wild-type: No pathogenic mutations detected; patient has normal DPD enzyme activity and can tolerate standard doses of fluoropyrimidine chemotherapy. Heterozygous (Intermediate metabolizer): One mutated DPYD allele identified; reduced DPD enzyme activity; intermediate risk for toxicity; dose adjustment may be considered. Homozygous/Compound Heterozygous (Poor metabolizer or DPD deficient): Two pathogenic mutations or complete gene loss; severely reduced or absent DPD enzyme activity; high risk for severe toxicity; chemotherapy is contraindicated or requires significant dose modification.
- Common Mutations Detected: The test screens for major known DPYD mutations including DPYD*2A (IVS14+1G>A), DPYD*3 (1679T>G), DPYD*4 (1690A>G), and other pathogenic variants depending on the laboratory's panel.
- Units of Measurement: Qualitative results reported as present or absent for specific mutations; genotype classification based on allele status.
- Interpretation
- Normal Result (Wild-type DPYD): No pathogenic mutations identified; patient possesses normal DPD enzyme activity; can tolerate standard-dose fluoropyrimidine chemotherapy; standard toxicity monitoring protocols apply.
- Heterozygous Result (One Mutation): One defective DPYD allele present; approximately 50% reduction in DPD enzyme activity; categorized as intermediate metabolizer; carries moderate risk for chemotherapy toxicity; dose reduction of 25-50% may be recommended; enhanced monitoring recommended.
- Homozygous or Compound Heterozygous Result (Two Mutations): Two defective DPYD alleles identified; severely reduced or completely absent DPD enzyme activity; classified as poor metabolizer or DPD deficient; very high risk for life-threatening toxicity; fluoropyrimidine chemotherapy is generally contraindicated; alternative chemotherapy regimens should be considered.
- Clinical Significance: DPD deficiency affects 3-8% of the population; genetic testing is recommended by FDA before fluoropyrimidine administration; mutations associated with increased risk of severe hematologic toxicity, neurotoxicity, gastrointestinal toxicity, hand-foot syndrome, and potentially fatal complications.
- Factors Affecting Results: Genetic polymorphisms may vary by ethnicity; different laboratory panels detect different mutation combinations; phenotypic expression can vary due to other genetic modifiers; acquired deficiency may occur but genetic testing specifically evaluates inherited mutations.
- Associated Organs
- Primary Organ Systems Affected by DPD Deficiency: Bone marrow/hematopoietic system; gastrointestinal tract; skin; nervous system; liver.
- Associated Medical Conditions: Colorectal cancer; breast cancer; gastric cancer; head and neck cancer; ovarian cancer; pancreatic cancer; other solid tumors requiring fluoropyrimidine-based chemotherapy.
- Potential Complications from Fluoropyrimidine Toxicity: Severe neutropenia (dangerously low white blood cell count); thrombocytopenia (low platelet count); hemorrhage; severe diarrhea and mucositis; hand-foot syndrome (palmar-plantar erythrodysesthesia); cardiotoxicity; neurotoxicity including peripheral neuropathy; acute cerebellar syndrome; hepatotoxicity; acute respiratory distress syndrome; potentially fatal sepsis; death if unrecognized and untreated.
- Disease Screening and Diagnosis: This is a pharmacogenetic test used for identifying inherited DPD deficiency; allows for early recognition of patients at risk before drug administration; facilitates personalized chemotherapy planning.
- Follow-up Tests
- Recommended Follow-up Based on Results: For normal result: proceed with standard chemotherapy protocol and standard toxicity monitoring; baseline complete blood count, liver function tests, renal function tests; regular clinical assessment for adverse effects.
- For Heterozygous Results: Oncologist consultation for dose modification discussion; baseline and pre-treatment laboratory assessment; comprehensive toxicity monitoring protocol; more frequent clinical evaluations during chemotherapy; baseline and serial complete blood count with differential; liver and renal function monitoring; nutritional assessment.
- For Homozygous/Compound Heterozygous Results: Urgent oncologist consultation for alternative chemotherapy regimen selection; genetic counseling recommended; family member genetic testing consideration; baseline comprehensive laboratory assessment; if alternative fluoropyrimidine therapy is considered, plasma uracil level measurement may be ordered; discussion of clinical trial eligibility.
- Complementary Testing: Comprehensive metabolic panel; complete blood count with differential; liver function tests including albumin, bilirubin, transaminases; renal function assessment (creatinine, BUN); coagulation studies (PT/INR); tumor staging assessments; other relevant pharmacogenomic testing for additional drug metabolizers.
- Ongoing Monitoring: Frequency depends on chemotherapy schedule; typically before each chemotherapy cycle; assessment for emerging toxicities; vital signs monitoring; weight monitoring; assessment for signs of infection, bleeding, or severe gastrointestinal symptoms.
- Fasting Required?
- Fasting Status: No, fasting is NOT required for DPD gene mutation analysis.
- Specimen Collection: Blood sample collection (typically 2-5 mL in EDTA or appropriate tube per laboratory); DNA extraction performed from blood cells; no time-of-day restrictions; can be collected anytime.
- Patient Preparation: No special preparation needed; no dietary restrictions; no medication adjustments required; patient should bring valid identification and insurance information; inform phlebotomist if patient has blood drawing concerns or bleeding disorders.
- Medications and Substances: No medications need to be avoided; no supplements need to be discontinued; no alcohol restrictions; this is a genetic test not affected by current medication use or dietary intake.
- Turnaround Time: Results typically available within 7-14 business days depending on laboratory; some facilities offer expedited testing for urgent clinical situations; complex cases may require extended analysis time.
How our test process works!
