CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A NGS Genetic DNA Test
Comprehensive Genetic Testing for Limb-Girdle Muscular Dystrophy
The CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, providing precise identification of mutations in the calpain-3 gene responsible for this progressive muscle disorder. This advanced testing methodology offers patients and healthcare providers critical insights for accurate diagnosis and personalized treatment planning.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the CAPN3 gene located on chromosome 15, which encodes the calpain-3 protein essential for muscle fiber integrity and function. The test employs next-generation sequencing technology to comprehensively examine:
- Complete coding regions of the CAPN3 gene
- Exon-intron boundaries and splice site variations
- Point mutations, deletions, and insertions
- Copy number variations affecting gene function
- Pathogenic variants associated with disease progression
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in shoulder and hip regions
- Difficulty rising from chairs or climbing stairs
- Waddling gait pattern and frequent falls
- Muscle wasting in pelvic and shoulder girdles
- Family history of muscular dystrophy or unexplained muscle disorders
- Elevated creatine kinase levels without clear explanation
- Onset of symptoms typically between childhood and early adulthood
Clinical Benefits of Genetic Testing
Undergoing CAPN3 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out limb-girdle muscular dystrophy type 2A
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides appropriate therapeutic interventions
- Clinical Trial Eligibility: Opens access to emerging treatments
- Psychological Relief: Reduces diagnostic uncertainty and anxiety
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates presence of pathogenic CAPN3 mutations confirming diagnosis
- Negative Result: Suggests absence of detectable CAPN3 mutations
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with single mutation copies
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston and Texas Gulf Coast areas
- Phoenix and Southwest locations
- All other major metropolitan centers nationwide
Take Control of Your Neurological Health
Don’t let uncertainty about muscle weakness symptoms affect your quality of life. Our CAPN3 genetic testing provides definitive answers and empowers you with knowledge for better health management. With results delivered within 3-4 weeks and comprehensive genetic counseling included, you’ll receive the clarity needed to make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized care.
