LAMA2 Gene Muscular Dystrophy Type 1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Muscular Dystrophy
The LAMA2 Gene Muscular Dystrophy Type 1A NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes next-generation sequencing technology to analyze the LAMA2 gene, which encodes the alpha-2 chain of laminin-211 (merosin). Mutations in this critical gene are responsible for merosin-deficient congenital muscular dystrophy type 1A, a severe form of muscular dystrophy that typically presents in infancy or early childhood.
What Does This Test Measure?
This comprehensive genetic test specifically targets the LAMA2 gene to identify pathogenic variants including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations
- Frameshift and nonsense mutations
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained muscle weakness beginning in infancy or early childhood
- Delayed motor milestones (sitting, standing, walking)
- Hypotonia (reduced muscle tone)
- Joint contractures and skeletal deformities
- Elevated serum creatine kinase levels
- White matter changes on brain MRI
- Family history of muscular dystrophy or unexplained neurological disorders
- Parents planning pregnancy with known family history of LAMA2 mutations
Key Benefits of LAMA2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of merosin-deficient congenital muscular dystrophy
- Early Intervention: Enables timely implementation of appropriate treatments and therapies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Personalized Care: Guides development of individualized management strategies
- 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 the presence of pathogenic LAMA2 mutations confirming diagnosis of merosin-deficient congenital muscular dystrophy
- Negative Result: No disease-causing mutations detected in the LAMA2 gene
- Variant of Uncertain Significance: Genetic changes identified but clinical significance unknown – may require additional family testing
- Carrier Status: Identification of individuals carrying one copy of a mutated gene
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 cities. Our network of certified collection centers ensures accessible genetic testing for patients nationwide.
Take Control of Your Neurological Health
Early genetic diagnosis of LAMA2-related muscular dystrophy can significantly impact treatment outcomes and quality of life. Our comprehensive testing approach combines cutting-edge NGS technology with expert genetic counseling to provide you with the most accurate and actionable genetic information.
Ready to schedule your LAMA2 Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing personalized care strategies.
