PAX2 Gene Papillorenal syndrome NGS Genetic Test
Short Name: PAX2 NGS Test
Also known as: Renal Coloboma Syndrome Genetic Test, PAX2 Gene Mutation Test
PAX2 Gene Papillorenal syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. 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
The purpose of the PAX2 Gene NGS Genetic Test is to identify pathogenic mutations in the PAX2 gene that cause Papillorenal syndrome. This test aids in confirming a clinical diagnosis, assessing risk in asymptomatic family members, and guiding reproductive decisions. Early diagnosis allows for proactive monitoring of renal function and vision, potentially preventing complications such as end-stage renal disease or blindness. The test is also valuable for prenatal diagnosis in families with known mutations.
- Test Code
- 5894
- CPT Code
- 81479
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please inform the lab about any relevant clinical history or family history.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PAX2 Gene NGS Genetic Test is to identify pathogenic mutations in the PAX2 gene that cause Papillorenal syndrome. This test aids in confirming a clinical diagnosis, assessing risk in asymptomatic family members, and guiding reproductive decisions. Early diagnosis allows for proactive monitoring of renal function and vision, potentially preventing complications such as end-stage renal disease or blindness. The test is also valuable for prenatal diagnosis in families with known mutations.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient's name and date of birth.
- For home collection, keep the sample at room temperature until pickup.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PAX2 mutations can significantly improve management of renal and ocular complications. This NGS test provides comprehensive analysis for accurate diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Incorrect labeling
- Sample not received within 48 hours without proper storage
Understanding Your Results
Positive
A pathogenic mutation in PAX2 confirms the diagnosis of Papillorenal syndrome. Genetic counseling and family screening are recommended.
Negative
No mutation detected in PAX2. However, clinical diagnosis may still be considered if symptoms are strong; other genetic causes may be explored.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify.
Consult a geneticist or nephrologist if you or your child have symptoms suggestive of papillorenal syndrome, such as kidney abnormalities or vision problems, or if there is a family history of the condition.
Limitations
- ⚠This test detects mutations in the PAX2 gene only; other genes may be involved in similar phenotypes.
- ⚠NGS may not detect large deletions/duplications; additional testing may be required if clinical suspicion is high.
- ⚠Variants of uncertain significance may be reported; interpretation may require familial segregation studies.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | PAX2 Gene Papillorenal syndrome NGS Genetic Test | Sanger Sequencing | Chromosomal Microarray | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | PAX2 Gene Papillorenal syndrome NGS Genetic Test |
Frequently Asked Questions
What is Papillorenal syndrome?
What are the symptoms of Papillorenal syndrome?
How is Papillorenal syndrome diagnosed?
What is NGS genetic testing?
What is the cost of the PAX2 gene NGS test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Will I receive raw data files?
Is home sample collection available?
Can this test be done for children?
What does a positive result mean?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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