PPOX Gene Porphyria variegata NGS Genetic Test
Short Name: PPOX Gene Porphyria NGS Test
PPOX Gene Porphyria variegata NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To diagnose Porphyria variegata by identifying pathogenic mutations in the PPOX gene using NGS technology, guiding clinical management and genetic counselling.
- Test Code
- 2217
- 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
- NGS Technology
Sample Collection
Provide clinical history and attend a genetic counselling session to draw a pedigree chart.
Method: Standard Blood Collection
Laboratory Analysis
Standard blood draw procedure; no fasting required.
Report Delivery
Sample is sent to the laboratory for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Porphyria variegata by identifying pathogenic mutations in the PPOX gene using NGS technology, guiding clinical management and genetic counselling.
How to Prepare
- Provide detailed clinical history
- Attend genetic counselling session
- No fasting required before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing porphyria variegata and preventing complications. Consult a healthcare provider if symptoms or family history are present."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic variant
Diagnosis of Porphyria variegata confirmed; management and treatment should be initiated under medical guidance.
Negative for pathogenic variant
Porphyria variegata unlikely, but clinical correlation is advised if symptoms persist.
Variant of uncertain significance
Further testing and genetic counselling recommended for clarity.
If symptoms of porphyria variegata persist, or if there is a family history of the condition, consult a healthcare provider for genetic testing and management.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counselling for interpretation
Risks & Considerations
- ●Minor bruising at collection site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Insufficient DNA quality
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Frequently Asked Questions
What is Porphyria variegata?
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