DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Neuromuscular Disorders
The DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the desmin (DES) gene associated with this rare inherited neuromuscular condition. This specialized test utilizes next-generation sequencing technology to provide comprehensive genetic analysis, enabling precise diagnosis and personalized treatment planning for patients experiencing progressive muscle weakness and atrophy.
What This Advanced Genetic Test Measures
This sophisticated diagnostic test specifically targets the DES gene, which encodes the desmin protein crucial for maintaining structural integrity in muscle cells. The test detects:
- Pathogenic mutations in the DES gene responsible for neurogenic scapuloperoneal syndrome
- Specific genetic variants associated with Kaeser type presentation
- Inheritance patterns that may affect family members
- Genetic markers that differentiate this condition from other neuromuscular disorders
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with specific clinical symptoms, including:
- Progressive weakness in shoulder girdle muscles (scapular region)
- Muscle atrophy and weakness in peroneal muscles affecting foot movement
- Family history of similar neuromuscular symptoms
- Unexplained muscle weakness beginning in adolescence or early adulthood
- Difficulty with shoulder movement and foot drop symptoms
- Patients with suspected inherited neurogenic disorders
Significant Benefits of Genetic Testing
Undergoing the DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out DES gene mutations with high precision
- Family Planning: Enables informed reproductive decisions for affected families
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Provides insights into disease progression and expected outcomes
- Genetic Counseling: Supports comprehensive family risk assessment
- Differential Diagnosis: Distinguishes from other similar neuromuscular conditions
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Indicates the presence of DES gene mutation, confirming diagnosis and enabling appropriate management
- Negative Result: Suggests absence of tested DES mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
All results are accompanied by detailed interpretation from our board-certified genetic specialists and genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test – Discount Price | $500 |
| DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about your neuromuscular symptoms delay proper diagnosis and treatment. Our DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type NGS Genetic DNA Test provides the clarity needed for effective medical management. With advanced next-generation sequencing technology and expert genetic interpretation, you can make informed decisions about your health and future.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward precise diagnosis and personalized care.
