CAPN3 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The CAPN3 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2A NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CAPN3 gene, which encodes the protein calpain-3 essential for muscle function and maintenance. Limb-girdle muscular dystrophy type 2A (LGMD2A) is one of the most common forms of muscular dystrophy worldwide, affecting approximately 1 in 15,000 to 1 in 200,000 individuals depending on geographic and ethnic background.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the entire CAPN3 gene to identify:
- Point mutations, deletions, and insertions in the CAPN3 gene
- Autosomal recessive inheritance pattern variants
- Pathogenic mutations responsible for calpain-3 deficiency
- Novel genetic variants with potential clinical significance
- Carrier status for family members
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Progressive muscle weakness in hips, shoulders, and pelvic area
- Difficulty climbing stairs, rising from chairs, or lifting objects
- Family history of muscular dystrophy or unexplained muscle disorders
- Elevated creatine kinase levels without clear explanation
- Muscle biopsy showing calpain-3 deficiency
- Couples planning pregnancy with family history of LGMD2A
- Children showing delayed motor milestones or muscle weakness
Key Benefits of CAPN3 Genetic Testing
- Accurate Diagnosis: Provides definitive diagnosis for individuals with suspected LGMD2A
- Family Planning: Enables informed reproductive decisions for carriers and affected families
- Early Intervention: Facilitates timely management and treatment strategies
- Genetic Counseling: Professional guidance for understanding inheritance patterns
- Clinical Management: Helps neurologists develop personalized care plans
- Research Contribution: Advances understanding of muscular dystrophy genetics
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates presence of pathogenic CAPN3 mutations confirming LGMD2A diagnosis
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CAPN3 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2A 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network ensures accessible genetic testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscular dystrophy affect your quality of life. Our comprehensive CAPN3 genetic testing provides the answers you need for informed healthcare decisions. With advanced NGS technology, professional genetic counseling, and competitive pricing at $500 USD, you can access world-class diagnostic services.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early diagnosis through genetic testing can significantly impact disease management and quality of life. Take the first step toward clarity and personalized care by booking your CAPN3 Gene Limb-Girdle Muscular Dystrophy Type 2A NGS Genetic DNA Test today.
