DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test
Short Name: DPYD Gene NGS Test
Also known as: DPD Deficiency Test, DPYD Mutation Analysis, Dihydropyrimidine Dehydrogenase Deficiency Test
DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card samples. Results in 3-4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the DPYD gene that affect the metabolism of 5-fluorouracil chemotherapy, enabling personalized treatment to prevent severe toxicity and improve patient outcomes.
- Test Code
- 1972
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or FTA Card
- Result Time
- 3-4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Ensure proper identification and prescription.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn from a vein in the arm using a needle.
Report Delivery
Apply pressure to the puncture site with a bandage to stop bleeding.
Timeline: 3-4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the DPYD gene that affect the metabolism of 5-fluorouracil chemotherapy, enabling personalized treatment to prevent severe toxicity and improve patient outcomes.
How to Prepare
- Fast for 8-10 hours before the test if specified
- Bring relevant medical documents
- Avoid strenuous activity before collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"DPYD gene testing is essential for patients undergoing 5-FU chemotherapy to identify individuals at risk of severe toxicity and optimize treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labeled sample
- Insufficient sample volume
- Contaminated sample
Understanding Your Results
Normal
No pathogenic variants detected. Standard 5-FU chemotherapy dosage may be administered with routine monitoring.
Heterozygous mutation
One mutated allele detected. Reduced enzyme activity likely. Consider dose reduction or careful monitoring during 5-FU therapy.
Homozygous mutation
Two mutated alleles detected. Severe or complete enzyme deficiency. Avoid 5-FU chemotherapy or use alternative treatments with close supervision.
Variant of uncertain significance
Genetic change with unknown impact. Further evaluation and clinical correlation recommended.
Consult your oncologist or genetic counselor immediately after receiving results to discuss implications and adjust treatment if necessary.
Limitations
- ⚠May not detect all rare mutations
- ⚠Results are based on current knowledge of gene variants
- ⚠False negatives are possible
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Hemolyzed blood sample
- ●Degraded DNA
- ●Contamination during sample handling
Compare With Similar Tests
| Test | DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test | DPYD Enzyme Activity Assay | UGT1A1 Gene Test | MTHFR Gene Test |
|---|---|---|---|---|
| Comparison | DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test |
Frequently Asked Questions
What is dihydropyrimidine dehydrogenase deficiency?
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