PRX Gene Dejerine-Sottas Disease NGS Genetic DNA Test
Understanding Dejerine-Sottas Disease and PRX Gene Testing
Dejerine-Sottas disease represents a severe form of hereditary motor and sensory neuropathy (HMSN) characterized by progressive peripheral nerve damage that typically manifests in early childhood. The PRX Gene Dejerine-Sottas Disease NGS Genetic DNA Test employs advanced next-generation sequencing technology to identify mutations in the PRX (periaxin) gene, which plays a crucial role in maintaining the structural integrity of peripheral nerves. This comprehensive genetic analysis provides definitive diagnostic information for patients presenting with symptoms of this debilitating neurological condition.
What Does the PRX Gene Test Measure?
This sophisticated genetic test specifically targets and analyzes the PRX gene to detect pathogenic variants associated with Dejerine-Sottas disease. The test examines:
- Complete coding regions of the PRX gene
- Exon-intron boundaries for splicing mutations
- Copy number variations and large deletions
- Point mutations and small insertions/deletions
- All known pathogenic variants linked to peripheral neuropathies
Who Should Consider PRX Gene Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Early-onset progressive muscle weakness in extremities
- Delayed motor milestones in childhood development
- Significant sensory loss and numbness
- Foot deformities including pes cavus (high arches)
- Progressive muscle atrophy and wasting
- Reduced or absent deep tendon reflexes
- Family history of hereditary neuropathies
- Unexplained peripheral nerve dysfunction
Benefits of PRX Gene Dejerine-Sottas Disease Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Dejerine-Sottas disease with high accuracy
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Genetic Counseling: Supports comprehensive family risk assessment and education
- Research Contribution: Advances understanding of peripheral neuropathies
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your PRX gene test results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the PRX gene, confirming the diagnosis of Dejerine-Sottas disease. Our genetic counselors will explain the specific mutation identified, its inheritance pattern, and implications for family members.
Negative Result
A negative result suggests that no pathogenic PRX gene mutations were detected. However, this does not completely rule out hereditary neuropathy, as other genetic causes may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
If a genetic change of unknown clinical significance is identified, our team will provide guidance on interpretation and may recommend periodic re-evaluation as scientific knowledge advances.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Neurological examination findings
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. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neuropathies impact your quality of life. The PRX Gene Dejerine-Sottas Disease NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Ready to schedule your genetic test? Call our dedicated genetics team today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and comprehensive neurological care.
