STIM1 Gene Myopathy Tubular Aggregate Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The STIM1 Gene Myopathy Tubular Aggregate Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the STIM1 (Stromal Interaction Molecule 1) gene, which plays a critical role in calcium signaling within muscle cells. When this gene malfunctions, it leads to the formation of tubular aggregates in muscle fibers, causing progressive muscle weakness and fatigue that characterizes tubular aggregate myopathy type 1.
What Does This Test Measure?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire STIM1 gene for pathogenic variants. The test specifically detects:
- Point mutations in the STIM1 gene coding regions
- Small insertions and deletions affecting gene function
- Genetic variations that disrupt calcium store-operated entry mechanisms
- Mutations leading to abnormal tubular aggregate formation in muscle tissue
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness beginning in childhood or early adulthood
- Unexplained fatigue and exercise intolerance
- Difficulty with walking, climbing stairs, or rising from chairs
- Family history of neuromuscular disorders or similar symptoms
- Previous inconclusive muscle biopsy results showing tubular aggregates
- Delayed motor milestones in childhood development
Clinical Benefits of STIM1 Genetic Testing
Undergoing this genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out tubular aggregate myopathy type 1
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neuromuscular disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic STIM1 mutations confirming tubular aggregate myopathy type 1 diagnosis
- Negative Result: Suggests that STIM1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and family studies
- Carrier Status: Determines if individuals carry one copy of the mutation without showing symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | STIM1 Gene Myopathy Tubular Aggregate Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing results regardless of your location.
Take Control of Your Neurological Health Today
Don’t let unexplained muscle symptoms affect your quality of life. Our STIM1 genetic test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists and neurologists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your STIM1 Gene Myopathy Tubular Aggregate Type 1 NGS Genetic DNA Test and take the first step toward definitive diagnosis and personalized care.
