STIM1 Gene Stormorken syndrome NGS Genetic Test
Short Name: STIM1 Gene Test
Also known as: STIM1 Mutation Test, Stormorken Syndrome Genetic Test
STIM1 Gene Stormorken 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 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 detect mutations in the STIM1 gene for the diagnosis of Stormorken syndrome, aiding in clinical management and genetic counseling.
- Test Code
- 5348
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform the doctor about any medications or medical conditions.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the STIM1 gene for the diagnosis of Stormorken syndrome, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper identification
- Use sterile equipment
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing Stormorken syndrome, especially in families with a history of bleeding disorders or muscle weakness. Early detection can guide management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improper labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Stormorken syndrome. Genetic counseling recommended.
No pathogenic variant detected
Unlikely to have Stormorken syndrome, but clinical correlation needed.
Variant of uncertain significance
Further testing or family studies may be required.
If you experience symptoms such as easy bruising, muscle weakness, or vision problems, or if there is a family history of Stormorken syndrome.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Not a diagnostic tool for other conditions
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible bruising or infection at puncture site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Technical errors in sequencing
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Frequently Asked Questions
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Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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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