SUOX Gene Sulfite oxidase deficiency NGS Genetic Test
Short Name: SUOX Gene Test
Also known as: Sulfite Oxidase Deficiency Genetic Test, SUOX Gene Analysis, Sulfite Oxidase Deficiency NGS Test
SUOX Gene Sulfite oxidase deficiency 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 are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To detect mutations in the SUOX gene for the diagnosis, management, and genetic counseling of sulfite oxidase deficiency, aiding in personalized treatment plans and risk assessment.
- Test Code
- 2250
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling session is recommended to understand test implications and obtain informed consent. Provide clinical and family history details.
Method: Phlebotomy or Home Sample Collection
Laboratory Analysis
Standard blood draw via venipuncture or use of FTA card for blood drop. Ensure aseptic technique and proper labeling.
Report Delivery
Sample is transported to the laboratory under controlled conditions for processing and analysis. Patients may resume normal activities.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the SUOX gene for the diagnosis, management, and genetic counseling of sulfite oxidase deficiency, aiding in personalized treatment plans and risk assessment.
How to Prepare
- Use sterile collection tubes or FTA cards as specified
- Label samples with patient ID and date
- Store at ambient room temperature if using FTA card
- Ship to lab within 24 hours for optimal results
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing via NGS is essential for early and accurate diagnosis of sulfite oxidase deficiency, enabling personalized management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Unlabeled or mislabeled specimens
- Contaminated or degraded DNA
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
Confirms diagnosis of sulfite oxidase deficiency; recommends clinical management, treatment, and family screening.
Variant of Uncertain Significance (VUS)
Requires further investigation, family studies, and clinical correlation; genetic counseling advised.
No Pathogenic Variant Detected
Low likelihood of sulfite oxidase deficiency; but clinical symptoms may warrant additional testing or monitoring.
Consult a healthcare provider if you experience symptoms such as developmental delays, seizures, or neurological issues, or if there is a family history of sulfite oxidase deficiency. Post-test consultation is essential for interpreting results and planning care.
Limitations
- ⚠May not detect all genetic variants due to technical constraints
- ⚠Results require clinical correlation and genetic counseling
- ⚠False negatives possible in rare cases of intronic or regulatory mutations
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results
- ●Risk of false negatives or variants of uncertain significance
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Hemolyzed blood specimens
- ●Incorrect sample handling or storage
Compare With Similar Tests
| Test | SUOX Gene Sulfite oxidase deficiency NGS Genetic Test | G6PD Deficiency Genetic Test | Phenylketonuria (PKU) Genetic Test | Galactosemia Genetic Test |
|---|---|---|---|---|
| Comparison | SUOX Gene Sulfite oxidase deficiency NGS Genetic Test |
Frequently Asked Questions
What is sulfite oxidase deficiency?
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What if a mutation is found?
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