UROS Gene Porphyria congenital erythropoietic NGS Genetic Test
Short Name: UROS Gene CEP NGS Test
Also known as: Gunther's Disease, Congenital Erythropoietic Porphyria, CEP
UROS Gene Porphyria congenital erythropoietic 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 Results typically available within 3 to 4 weeks after 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 detect pathogenic mutations in the UROS gene for diagnosing Congenital Erythropoietic Porphyria, aiding in early intervention and family planning.
- Test Code
- 2215
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with porphyria.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Blood sample collected via venipuncture or one drop of blood on an FTA card, ensuring proper labeling and handling.
Report Delivery
Sample is processed for DNA extraction and NGS sequencing. Results are analyzed and a clinical report is generated.
Timeline: Results typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the UROS gene for diagnosing Congenital Erythropoietic Porphyria, aiding in early intervention and family planning.
How to Prepare
- Fasting is not required
- Sample should be collected in an appropriate container (EDTA tube or FTA card)
- Ensure sample is transported at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of Congenital Erythropoietic Porphyria, especially in families with a history of porphyria or related photosensitivity and skin blistering symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Congenital Erythropoietic Porphyria. Genetic counseling and management recommended.
Negative for pathogenic mutation
No mutations detected in UROS gene. Clinical correlation is advised if symptoms persist.
Variant of Uncertain Significance (VUS)
Genetic variant found but clinical significance unknown. Further testing or family studies may be needed.
Carrier status
Patient carries one mutated copy of UROS gene, usually asymptomatic but can pass to offspring.
If genetic test results are positive, if symptoms of CEP persist despite negative results, or for family planning advice.
Limitations
- ⚠May not detect all possible genetic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Genetic privacy concerns
- ●Potential psychological impact of results
Interfering Factors
- ●Degraded DNA sample
- ●Sample contamination
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | UROS Gene Porphyria congenital erythropoietic NGS Genetic Test | Porphobilinogen Deaminase Test | ALA Dehydratase Test | Urinary Porphyrin Analysis | Skin Biopsy |
|---|---|---|---|---|---|
| Comparison | UROS Gene Porphyria congenital erythropoietic NGS Genetic Test |
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