STAC3 Gene Native American Myopathy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Congenital Myopathy
The STAC3 Gene Native American Myopathy NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neuromuscular disorders. This advanced testing method utilizes next-generation sequencing (NGS) technology to identify mutations in the STAC3 gene, which are responsible for Native American myopathy—a rare congenital muscle disorder characterized by muscle weakness, joint contractures, and distinctive facial features.
What Does This Test Measure?
Our comprehensive NGS genetic test specifically targets the STAC3 gene, analyzing its complete coding regions and splice sites to detect pathogenic variants. The test identifies:
- Point mutations in the STAC3 gene
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene function
- Known pathogenic variants associated with Native American myopathy
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Congenital muscle weakness and hypotonia
- Joint contractures and limited mobility
- Characteristic facial features including long face, high-arched palate
- Short stature and skeletal abnormalities
- Family history of congenital myopathy
- Individuals of Native American descent with muscle symptoms
- Unexplained muscle disorders in infancy or childhood
Clinical Benefits of STAC3 Genetic Testing
Undergoing STAC3 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out STAC3-related Native American myopathy
- Treatment Guidance: Informs appropriate management strategies for muscle weakness
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables proactive management of potential complications
- Genetic Confirmation: Eliminates diagnostic uncertainty and unnecessary testing
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented in a comprehensive report:
- Positive Result: Indicates the presence of a pathogenic STAC3 mutation, confirming Native American myopathy diagnosis
- Negative Result: Suggests that STAC3 mutations are not the cause of symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed interpretation and recommendations for next steps, with genetic counseling available to help understand the implications for you and your family.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | STAC3 Gene Native American Myopathy 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 |
| Specialty | Pediatrics, Genetics |
| Disease Category | Dysmorphology, Neuromuscular Disorders |
Pre-Test Requirements
Before scheduling your STAC3 genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Review of potential outcomes and their significance
- Discussion of insurance coverage and financial considerations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic muscle disorders affect your quality of life. Our STAC3 Gene Native American Myopathy NGS Genetic DNA Test provides the answers you need for informed medical decisions and peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take advantage of our special $500 USD pricing. Our genetic specialists are ready to guide you through the testing process and help you understand what your results mean for your health and your family’s future.
Early genetic testing can make a significant difference in managing congenital myopathy and planning appropriate interventions. Contact us now to begin your journey toward genetic clarity and personalized medical care.
