DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Centronuclear Myopathy
The DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with centronuclear myopathy type 1. This advanced testing methodology provides crucial insights for patients and families affected by this rare inherited muscle disorder, enabling early intervention and personalized treatment strategies.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the DNM2 (dynamin 2) gene, which plays a critical role in muscle cell structure and function. The test utilizes next-generation sequencing technology to identify:
- Point mutations in the DNM2 gene coding regions
- Small insertions and deletions affecting gene function
- Specific genetic variants known to cause centronuclear myopathy type 1
- Novel mutations that may contribute to disease development
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive muscle weakness beginning in childhood or adulthood
- Delayed motor milestones in infants and young children
- Family history of centronuclear myopathy or similar neuromuscular disorders
- Unexplained muscle fatigue and exercise intolerance
- Facial weakness and ophthalmoplegia (eye movement difficulties)
- Skeletal abnormalities associated with muscle disorders
Clinical Benefits of Genetic Testing
Undergoing the DNM2 Gene Centronuclear Myopathy Type 1 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out centronuclear myopathy type 1 with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Provides insights into disease progression and potential complications
- Research Contribution: Advances understanding of rare neuromuscular disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps patients interpret their results:
- Positive Result: Indicates the presence of a DNM2 gene mutation associated with centronuclear myopathy type 1
- Negative Result: Suggests no detectable mutation in the DNM2 gene, 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
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Disease Category: Neurological Disorders
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of a detailed family pedigree chart
- Discussion of testing implications and potential outcomes
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 testing for patients nationwide.
Take Control of Your Neurological Health
Early genetic testing for centronuclear myopathy type 1 can significantly impact treatment outcomes and quality of life. Our team of neurological genetics specialists is committed to providing comprehensive care and support throughout your testing journey.
Ready to schedule your DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic DNA 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 making informed medical decisions.
