SELENON Gene Rigid spine muscular dystrophy NGS Genetic Test
Short Name: SELENON RSMD NGS Test
Also known as: SELENON Gene Test, Rigid Spine Muscular Dystrophy Genetic Test, RSMD NGS Test
SELENON Gene Rigid spine muscular dystrophy 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 identify mutations in the SELENON gene associated with Rigid Spine Muscular Dystrophy for accurate diagnosis, prognosis assessment, and genetic counseling.
- Test Code
- 1798
- 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
No special preparation required. Patients should provide a detailed clinical history and participate in a genetic counseling session to draw a family pedigree chart.
Method: Venipuncture or FTA card blood drop
Laboratory Analysis
A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card by a trained phlebotomist.
Report Delivery
The sample is labeled, stored appropriately, and sent to the laboratory for analysis. Patients are informed about the turnaround time for results.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the SELENON gene associated with Rigid Spine Muscular Dystrophy for accurate diagnosis, prognosis assessment, and genetic counseling.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile equipment and follow aseptic techniques
- For blood samples, use EDTA tubes; for FTA cards, apply one drop of blood
- Store samples at ambient room temperature until transport
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is crucial for diagnosing Rigid Spine Muscular Dystrophy, enabling early intervention and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample type or improper collection method
- Samples with visible contamination
Understanding Your Results
Pathogenic variant detected
Confirms a diagnosis of Rigid Spine Muscular Dystrophy due to SELENON gene mutation. Genetic counseling recommended.
No pathogenic variant detected
Does not rule out RSMD caused by other genes or undetected mutations. Further clinical evaluation may be needed.
Variant of uncertain significance (VUS)
Requires additional family studies, functional analysis, or follow-up testing for clarification.
After receiving test results, consult a geneticist or neurologist for personalized management, treatment options, and family planning advice.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require correlation with clinical findings and family history
- ⚠Cannot predict disease severity or progression accurately
- ⚠Variant of uncertain significance (VUS) may require additional testing
Risks & Considerations
- ●Minimal risk associated with blood draw, such as bruising or soreness at the collection site
- ●Rare risk of infection or hematoma
- ●Emotional or psychological impact of test results, requiring genetic counseling support
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA quality in blood or saliva samples
- ●Technical errors in NGS sequencing or data analysis
Compare With Similar Tests
| Test | SELENON Gene Rigid spine muscular dystrophy NGS Genetic Test | Muscle Biopsy | Clinical Examination | Creatine Kinase Test | Electromyography (EMG) |
|---|---|---|---|---|---|
| Comparison | SELENON Gene Rigid spine muscular dystrophy NGS Genetic Test |
Frequently Asked Questions
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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