STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test
Short Name: STIM1 Myopathy NGS Test
Also known as: STIM1 Gene Mutation Test, Tubular Aggregate Myopathy Genetic Test, TAM1 NGS Test, STIM1-Related Myopathy DNA Test, Stormorken Syndrome Genetic Test
STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation if needed), Bioinformatic Pipeline Analysis, ACMG/AMP Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at laboratory. 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
This test is performed to identify mutations in the STIM1 gene that cause tubular aggregate myopathy type 1 and related conditions such as Stormorken syndrome. The purpose is to confirm a clinical or histopathological suspicion of STIM1-related myopathy, enable precise genetic diagnosis in patients with unexplained progressive muscle weakness, guide treatment decisions and disease management, facilitate genetic counselling for affected families, identify at-risk family members through cascade testing, and support informed reproductive planning.
- Test Code
- 1758
- CPT Code
- 81405
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation if needed), Bioinformatic Pipeline Analysis, ACMG/AMP Variant Classification
Sample Collection
No special preparation or fasting is required. Stay well-hydrated. Bring a valid photo ID and the clinician's referral prescription. Provide complete family history and medical records at the time of sample collection. A pre-test genetic counselling session is recommended.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer tube under aseptic conditions. For FTA card collection, a single drop of blood will be spotted on the designated area. The procedure typically takes less than 5 minutes.
Report Delivery
Apply gentle pressure on the venipuncture site with sterile cotton for 3-5 minutes. Avoid strenuous activity with the collection arm for a few hours. The sample will be transported under controlled conditions to DNA Labs India's NABL-accredited laboratory for processing.
Timeline: 3 to 4 Weeks from sample receipt at laboratory
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to identify mutations in the STIM1 gene that cause tubular aggregate myopathy type 1 and related conditions such as Stormorken syndrome. The purpose is to confirm a clinical or histopathological suspicion of STIM1-related myopathy, enable precise genetic diagnosis in patients with unexplained progressive muscle weakness, guide treatment decisions and disease management, facilitate genetic counselling for affected families, identify at-risk family members through cascade testing, and support informed reproductive planning.
How to Prepare
- No fasting required prior to blood sample collection
- Stay adequately hydrated before the blood draw
- Carry a valid government-issued photo ID and clinician's referral
- Inform the phlebotomist of any anticoagulant therapy or recent blood transfusions
- Provide complete family medical history and pedigree information if available
- For FTA card collection, ensure the finger is clean and dry before spotting
- Schedule a genetic counselling session before or after sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"STIM1 gene myopathy, also known as tubular aggregate myopathy type 1, is a rare inherited neuromuscular condition that primarily affects skeletal muscle function. Patients typically present with progressive proximal muscle weakness, exercise-induced myalgia, and in some cases, miosis and thrombocytopenia as part of Stormorken syndrome. Early genetic confirmation through NGS allows for precise diagnosis, targeted management, appropriate genetic counselling for family members, and informed reproductive planning. I recommend this test for patients with unexplained progressive myopathy, especially when muscle biopsy reveals tubular aggregates or when there is a suggestive family history consistent with autosomal dominant or recessive inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in EDTA tube
- Insufficient sample volume (less than 2 mL)
- Sample collected in wrong container (heparin tube or serum separator tube)
- Severely hemolyzed, lipemic, or icteric sample
- Sample received without proper labeling or identification
- Sample received beyond the stability window without prior arrangement
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the STIM1 gene has been identified. This confirms the molecular diagnosis of STIM1-related myopathy. Cascade testing of family members and genetic counselling are recommended.
Likely Pathogenic Variant Detected
A variant with strong evidence of disease association has been detected. Clinical correlation and familial segregation analysis are recommended for definitive classification.
Variant of Uncertain Significance (VUS)
A genetic change was identified but current evidence is insufficient to determine whether it causes disease. Further family testing, functional studies, and clinical follow-up are recommended.
Likely Benign Variant Detected
A variant was identified that is unlikely to be associated with disease. No clinical action is typically required.
No Pathogenic Variant Detected
No clinically significant mutations in the STIM1 gene were identified. This result does not exclude other genetic or non-genetic causes of myopathy. Further clinical evaluation and consideration of alternative genetic tests may be warranted.
Consult your neurologist or clinical geneticist if you or a family member experience progressive muscle weakness, difficulty walking or climbing stairs, unexplained muscle cramps or myalgia especially during exercise, breathing difficulties related to respiratory muscle weakness, or if a family member has been diagnosed with tubular aggregate myopathy or STIM1-related disorder. Early consultation is also advised if muscle biopsy findings show tubular aggregates. After receiving your genetic test results, schedule a follow-up appointment for result interpretation, genetic counselling, and management planning.
Limitations
- ⚠This test does not detect mitochondrial DNA variants associated with mitochondrial myopathies
- ⚠Deep intronic mutations, regulatory region variants, and large structural rearrangements beyond CNV detection capability may not be identified
- ⚠Variants of uncertain significance (VUS) may be detected and may require further familial segregation analysis
- ⚠This test does not substitute for comprehensive clinical evaluation, electromyography, or muscle biopsy when indicated
- ⚠Genetic mosaicism below the analytical sensitivity threshold may not be detected
- ⚠The presence of a pathogenic variant does not guarantee disease expression due to variable penetrance and expressivity
Risks & Considerations
- ●Minimal risk associated with blood draw: minor bruising, slight pain, or redness at the venipuncture site
- ●Very rare risk of infection at the puncture site
- ●Possibility of identifying variants of uncertain significance (VUS) which may cause anxiety and require further investigation
- ●Psychological impact of receiving a confirmed genetic diagnosis may require counselling support
- ●Potential implications for insurance and employment depending on jurisdiction (genetic non-discrimination protections vary)
Interfering Factors
- ●Recent blood transfusion within the past 30 days may affect DNA quality and variant detection
- ●Degraded or insufficient DNA sample quality may reduce sequencing coverage
- ●Presence of somatic mosaicism may result in variants being detected at low allele frequency
- ●Heparin-contaminated blood samples can interfere with downstream molecular assays
- ●Incomplete clinical information may affect variant interpretation accuracy
Compare With Similar Tests
| Test | STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test | Muscle Biopsy with Electron Microscopy | Sanger Sequencing of STIM1 Gene | Whole Exome Sequencing (WES) | Creatine Kinase (CK) Blood Test |
|---|---|---|---|---|---|
| Comparison | STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test |
Frequently Asked Questions
What is STIM1 gene myopathy?
What are the common symptoms of STIM1 gene myopathy?
How is STIM1 gene myopathy diagnosed?
What does the STIM1 NGS genetic test involve?
What is the cost of the STIM1 gene myopathy NGS genetic test in India?
How long does it take to get the test results?
Is fasting required before the test?
Is home sample collection available for this test?
What is the difference between STIM1 myopathy and Stormorken syndrome?
Can STIM1 gene myopathy be inherited?
What should I do if the test detects a variant of uncertain significance (VUS)?
Does DNA Labs India provide raw genetic data files?
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