SELENON Gene Rigid Spine Muscular Dystrophy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neuromuscular Disorders
The SELENON Gene Rigid Spine Muscular Dystrophy NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neuromuscular conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the SELENON gene, which plays a critical role in muscle function and development. Rigid spine muscular dystrophy is a progressive condition characterized by spinal rigidity, muscle weakness, and respiratory complications, making early and accurate diagnosis essential for effective management and treatment planning.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the SELENON gene (also known as SEPN1), which encodes selenoprotein N—a crucial protein involved in calcium homeostasis and redox regulation within muscle cells. The test employs sophisticated NGS technology to:
- Identify pathogenic variants and mutations in the SELENON gene
- Detect single nucleotide polymorphisms associated with disease development
- Analyze gene deletions, insertions, and complex rearrangements
- Provide comprehensive coverage of all coding regions and splice sites
- Offer high-resolution detection of both inherited and de novo mutations
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with specific clinical features or family history patterns:
- Progressive muscle weakness beginning in childhood or early adulthood
- Significant spinal rigidity and limited neck flexion
- Respiratory complications including restrictive lung disease
- Delayed motor milestones during childhood development
- Family history of muscular dystrophy or neuromuscular disorders
- Unexplained elevated creatine kinase levels
- Scoliosis or other spinal deformities with muscle involvement
- Difficulty with ambulation or progressive mobility limitations
Benefits of Genetic Testing for Rigid Spine Muscular Dystrophy
Undergoing the SELENON gene test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out rigid spine muscular dystrophy with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic profile
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to preserve muscle function
- Research Contribution: Advances understanding of rare neuromuscular disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic mutations in the SELENON gene, confirming the diagnosis of rigid spine muscular dystrophy
- Negative Result: Suggests that no disease-causing mutations were detected in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry a single copy of a mutated gene that could be passed to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Price Type | Amount (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
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that advanced genetic testing is accessible to patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our SELENON Gene Rigid Spine Muscular Dystrophy NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 (regularly $700), advanced genetic testing has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through the testing process and help you understand your genetic health.
