SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neuromuscular Disorders
The SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neuromuscular conditions. This advanced genetic analysis specifically targets mutations in the SYNE1 gene, which encodes nesprin-1 protein crucial for maintaining nuclear structure and function in muscle cells. When this gene malfunctions, it leads to progressive muscle degeneration, joint contractures, and potentially life-threatening cardiac complications.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the entire SYNE1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Copy number variations and structural rearrangements
- Pathogenic variants associated with Emery-Dreifuss Muscular Dystrophy Type 4
- Novel mutations that may not be documented in existing databases
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Early-onset progressive muscle weakness, particularly in shoulders and upper arms
- Joint contractures affecting elbows, ankles, and neck mobility
- Cardiac conduction abnormalities or cardiomyopathy symptoms
- Family history of neuromuscular disorders or sudden cardiac death
- Unexplained elevated creatine kinase levels
- Children or young adults with delayed motor development
- Individuals with suspected autosomal recessive inheritance patterns
Key Benefits of SYNE1 Genetic Testing
- Accurate Diagnosis: Provides definitive molecular confirmation of Emery-Dreifuss Muscular Dystrophy Type 4
- Family Planning Guidance: Enables informed reproductive decisions and prenatal testing options
- Personalized Treatment: Guides appropriate medical management and therapeutic interventions
- Cardiac Monitoring: Identifies individuals requiring regular cardiac surveillance
- Genetic Counseling: Supports comprehensive family risk assessment and education
- Research Contribution: Helps expand understanding of rare neuromuscular conditions
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic SYNE1 mutations confirming Emery-Dreifuss Muscular Dystrophy Type 4 diagnosis
- Negative Result: Suggests absence of detectable SYNE1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation and family studies
- Carrier Status: Determines if individuals carry one copy of mutated gene without disease symptoms
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with neurologists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
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
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Informed consent for genetic analysis
Nationwide Accessibility
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 collection centers ensures accessible genetic testing nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our SYNE1 genetic testing provides the clarity needed for proper diagnosis and management. With our discounted price of only $500, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive answers about your neuromuscular health.
Our dedicated genetic specialists are available to answer your questions, explain the testing process, and help you understand how this comprehensive analysis can benefit you and your family. Early detection and accurate diagnosis are crucial for managing Emery-Dreifuss Muscular Dystrophy Type 4 effectively.
