CAV3 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1C NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The CAV3 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1C NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the caveolin-3 (CAV3) gene, which plays a critical role in muscle cell membrane structure and function. When mutations occur in this gene, they disrupt normal muscle cell signaling and membrane integrity, leading to the progressive muscle weakness characteristic of limb-girdle muscular dystrophy type 1C.
What This Test Measures and Detects
Our Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the entire CAV3 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense mutations affecting protein function
- Pathogenic variants associated with autosomal dominant inheritance
- Genetic alterations that disrupt caveolin-3 protein production
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in shoulder and hip regions
- Difficulty climbing stairs or rising from seated positions
- Elevated creatine kinase (CK) levels without clear explanation
- Family history of muscular dystrophy or unexplained muscle weakness
- Onset of muscle symptoms in childhood or early adulthood
- Muscle cramps or exercise intolerance
- Suspected inherited neuromuscular disorders
Clinical Benefits of Genetic Testing
Undergoing CAV3 genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 1C
- Personalized Treatment: Guides appropriate management strategies and interventions
- Genetic Counseling: Enables informed family planning decisions
- Early Intervention: Facilitates proactive management of symptoms
- Family Risk Assessment: Identifies at-risk relatives for preventive monitoring
- Research Participation: Connects patients with clinical trials and emerging therapies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic CAV3 mutation, confirming the diagnosis of limb-girdle muscular dystrophy type 1C
- Negative Result: Suggests that CAV3 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 study
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CAV3 Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1C NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas 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 accessible, reliable service nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about muscle weakness symptoms delay your diagnosis. Early genetic testing for CAV3 mutations can provide the clarity needed for effective management of limb-girdle muscular dystrophy. Our expert team of neurologists and genetic specialists are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing personalized care for muscular dystrophy management.
