DPYS Gene Dihydropyrimidinuria NGS Genetic Test
Short Name: DPYS NGS Test
Also known as: DPYS Gene Mutation Test, Dihydropyrimidinase Deficiency Genetic Test, DPYS Sequencing Test, Pyrimidine Metabolism Gene Panel
DPYS Gene Dihydropyrimidinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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
This test is used to identify pathogenic mutations in the DPYS gene for definitive diagnosis of dihydropyrimidinuria. It is indicated for individuals with unexplained neurological symptoms, abnormal urine organic acid results showing elevated pyrimidines, family history of the condition, or carrier screening in at-risk family members. Results guide treatment decisions and genetic counseling.
- Test Code
- 1978
- CPT Code
- 81405
- ICD Code
- E79.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
A pre-test genetic counseling session is required to draw a pedigree chart of family members affected with dihydropyrimidinuria. Provide complete clinical history of the patient, including developmental milestones, seizure history, medications, and any prior metabolic or genetic test results.
Method: Venipuncture / FTA Card finger prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer, or a finger-prick blood sample onto an FTA card. No fasting is required. The procedure takes approximately 5-10 minutes.
Report Delivery
The sample is labeled, packaged according to biosafety protocols, and transported to the laboratory at ambient room temperature. Reports are typically available within 3 to 4 weeks. Results are accessible through the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
This test is used to identify pathogenic mutations in the DPYS gene for definitive diagnosis of dihydropyrimidinuria. It is indicated for individuals with unexplained neurological symptoms, abnormal urine organic acid results showing elevated pyrimidines, family history of the condition, or carrier screening in at-risk family members. Results guide treatment decisions and genetic counseling.
How to Prepare
- Ensure the patient or guardian has completed the pre-test genetic counseling session
- Provide complete clinical history and family pedigree information with the sample
- Blood should be collected in an EDTA (lavender top) vacutainer
- Alternatively, one drop of blood on FTA card is accepted
- Extracted DNA from an accredited laboratory is also accepted
- Label the sample clearly with patient name, date of birth, and test requested
- No fasting is required prior to sample collection
- Transport the sample at ambient room temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Dihydropyrimidinuria is often underdiagnosed due to symptom overlap with other neurodevelopmental conditions. Early identification through NGS-based DPYS gene testing enables targeted management and informed genetic counseling for affected families. Families with a history of unexplained developmental delays, seizures, or metabolic abnormalities should consider this test. Carrier testing is also recommended for family planning purposes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant (heparin tubes are not accepted)
- Insufficient sample volume
- Sample hemolyzed, clotted, or contaminated
- Missing patient identifiers or requisition form
- Sample received beyond the stability window
Understanding Your Results
DPYS gene mutations associated with dihydropyrimidinuria were not identified. Clinical correlation is advised if symptoms persist, as other genetic or metabolic conditions may be responsible.
Action: Consult with clinical geneticist or metabolic specialist for further evaluation.
Confirms a diagnosis of dihydropyrimidinuria. The patient has two copies of the same pathogenic mutation in the DPYS gene, consistent with autosomal recessive inheritance.
Action: Initiate metabolic management, dietary modifications, and genetic counseling for the family.
Confirms diagnosis. The patient carries two different pathogenic variants in the DPYS gene on separate alleles, consistent with autosomal recessive dihydropyrimidinuria.
Action: Begin treatment protocols, pharmacogenomic guidance (avoidance of 5-fluorouracil-based drugs), and offer carrier testing to parents and siblings.
The individual is a carrier of dihydropyrimidinuria. Carriers are typically asymptomatic but may have reduced dihydropyrimidinase activity.
Action: Genetic counseling recommended. Partner testing advised for family planning purposes.
A genetic change was identified in the DPYS gene, but there is insufficient evidence at this time to classify it as pathogenic or benign.
Action: Family segregation studies, clinical correlation, and periodic re-evaluation of variant classification are recommended.
Consult a clinical geneticist or metabolic specialist if the test result is positive, if a variant of uncertain significance is detected, or if clinical symptoms persist despite a negative result. Immediate consultation is recommended for newborns or infants presenting with seizures, developmental regression, or abnormal newborn screening suggestive of pyrimidine metabolism disorder.
Limitations
- ⚠This test does not detect mutations in genes other than DPYS that may cause similar metabolic symptoms
- ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing may not be detected
- ⚠A negative result does not completely rule out dihydropyrimidinuria if caused by non-coding or epigenetic mechanisms
- ⚠Some variants of uncertain significance (VUS) may require further family studies for definitive classification
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Small risk of infection at the puncture site (extremely rare)
- ●Emotional impact of genetic test results; genetic counseling is strongly recommended
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Recent blood transfusion within 6 months may affect variant detection
- ●Contamination of sample during collection or transport
- ●Presence of somatic mosaicism may lead to underdetection of variants
Compare With Similar Tests
| Test | DPYS Gene Dihydropyrimidinuria NGS Genetic Test | Urine Pyrimidine Analysis | Sanger Sequencing of DPYS Gene | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | DPYS Gene Dihydropyrimidinuria NGS Genetic Test |
Frequently Asked Questions
What is DPYS Gene Dihydropyrimidinuria?
What symptoms indicate that DPYS Gene testing may be needed?
How is the DPYS NGS Genetic Test performed?
What sample is required for this test?
What is the cost of the DPYS Gene Dihydropyrimidinuria NGS Genetic Test in India?
How long does it take to get the results?
Is home sample collection available for this test?
What does a positive test result mean?
Is there a cure for dihydropyrimidinuria?
Can this test be used for carrier screening?
What is the difference between this test and a Whole Exome Sequencing test?
Do I need genetic counseling before and after this test?
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