GJB1 Gene Dejerine-Sottas Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neuropathy
The GJB1 Gene Dejerine-Sottas Disease NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for this severe form of hereditary motor and sensory neuropathy. Dejerine-Sottas disease, also known as hereditary motor and sensory neuropathy type III, is a progressive neurological disorder characterized by significant nerve damage that typically manifests in early childhood.
What This Advanced Genetic Test Detects
This sophisticated diagnostic test specifically targets mutations in the GJB1 gene, which encodes the connexin-32 protein crucial for proper peripheral nerve function. Using Next Generation Sequencing (NGS) technology, the test comprehensively analyzes the entire GJB1 gene to identify:
- Point mutations affecting connexin-32 protein structure
- Frameshift mutations disrupting normal gene function
- Deletion and insertion mutations impacting nerve conduction
- Missense and nonsense mutations altering protein production
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Progressive muscle weakness beginning in early childhood
- Delayed motor development and walking difficulties
- Sensory loss and numbness in extremities
- Foot deformities including high arches and hammertoes
- Family history of peripheral neuropathy or neurological disorders
- Unexplained neurological symptoms with progressive deterioration
- Children with delayed developmental milestones and motor coordination issues
Significant Benefits of Early Detection
Undergoing the GJB1 Gene Dejerine-Sottas Disease test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of the genetic cause of neurological symptoms
- Personalized Treatment: Enables development of targeted management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows early intervention to slow disease progression
- Comprehensive Care: Facilitates coordinated care between neurologists and genetic specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates the presence of GJB1 gene mutation associated with Dejerine-Sottas disease, requiring comprehensive neurological management
- Negative Result: Suggests absence of tested GJB1 mutations, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
All results include detailed explanations and recommendations for next steps in your healthcare journey.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GJB1 Gene Dejerine-Sottas Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 4-5 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Documentation of family members affected with neurological symptoms
- Referral from a neurologist or genetic specialist (recommended)
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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our GJB1 Gene Dejerine-Sottas Disease NGS Genetic DNA Test provides the clarity needed for effective management and treatment planning. Early genetic diagnosis can significantly impact disease progression and quality of life outcomes.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized neurological care.
