GJB1 Gene CMTX1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neuropathy
The GJB1 Gene CMTX1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the GJB1 gene that cause Charcot-Marie-Tooth disease type X1 (CMTX1). This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the complete GJB1 gene coding region, offering unparalleled accuracy in detecting pathogenic variants responsible for X-linked hereditary motor and sensory neuropathy.
What Does the GJB1 Gene CMTX1 Test Measure?
This specialized genetic test specifically targets the GJB1 gene, which encodes the connexin 32 protein crucial for proper peripheral nerve function. The test detects:
- Pathogenic mutations in the GJB1 gene coding sequence
- Single nucleotide variants and small insertions/deletions
- X-linked inheritance patterns associated with CMTX1
- Genetic markers for progressive peripheral neuropathy
- Variants affecting myelin sheath formation and maintenance
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in hands, feet, and lower legs
- Sensory loss or numbness in extremities
- Foot deformities such as high arches or hammertoes
- Difficulty with balance and coordination
- Family history of neurological disorders or peripheral neuropathy
- Unexplained progressive gait abnormalities
- Symptoms beginning in childhood or early adulthood
- Male patients with affected maternal relatives
Key Benefits of GJB1 Genetic Testing
Undergoing the GJB1 Gene CMTX1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CMTX1 with high precision
- Family Planning Guidance: Informs reproductive decisions and inheritance risks
- Treatment Direction: Guides appropriate therapeutic interventions
- Prognostic Information: Helps predict disease progression and severity
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Early Intervention: Enables proactive management strategies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates presence of a pathogenic GJB1 mutation confirming CMTX1 diagnosis
- Negative Result: Suggests absence of detectable GJB1 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for female relatives in X-linked inheritance patterns
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GJB1 Gene CMTX1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary neuropathy symptoms affect your quality of life. The GJB1 Gene CMTX1 NGS Genetic DNA Test provides definitive answers that can transform your healthcare journey. Our team of neurological genetics specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health.
Book your appointment now and receive our special discounted rate of $500 for comprehensive GJB1 genetic analysis. Early diagnosis leads to better management and improved quality of life for individuals with hereditary neuropathies.
