GNB4 Gene CMTDIF NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease
The GNB4 Gene CMTDIF NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the GNB4 gene that cause Charcot-Marie-Tooth disease type 1F (CMTD1F). This hereditary neurological condition affects peripheral nerves, leading to progressive muscle weakness and sensory loss. Our advanced testing methodology provides patients and healthcare providers with precise genetic information essential for accurate diagnosis and personalized treatment strategies.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the GNB4 gene, which encodes the guanine nucleotide-binding protein subunit beta-4. Mutations in this gene disrupt normal nerve function by affecting intracellular signaling pathways crucial for peripheral nerve maintenance and regeneration. The test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the entire GNB4 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with CMTD1F
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals exhibiting symptoms suggestive of Charcot-Marie-Tooth disease or those with a family history of hereditary neuropathies. Key indicators include:
- Progressive muscle weakness in feet and hands
- High-arched feet or other foot deformities
- Reduced sensation in extremities
- Difficulty with fine motor skills
- Family history of similar neurological symptoms
- Unexplained peripheral neuropathy
- Progressive walking difficulties
Significant Benefits of Genetic Testing
Undergoing the GNB4 Gene CMTDIF NGS Genetic DNA Test offers numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive identification of CMTD1F, eliminating diagnostic uncertainty
- Family Planning: Enables informed reproductive decisions through genetic counseling
- Personalized Treatment: Guides development of targeted management strategies
- Proactive Monitoring: Facilitates early intervention and symptom management
- Genetic Counseling: Supports understanding of inheritance patterns and risk assessment
- Research Contribution: Advances scientific understanding of hereditary neuropathies
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our genetic counseling team. Possible outcomes include:
- Positive Result: Indicates the presence of pathogenic GNB4 gene mutations associated with CMTD1F
- Negative Result: Suggests no detectable mutations in the GNB4 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
All results are accompanied by comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (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 Focus: Neurological Disorders
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
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 network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. Our GNB4 Gene CMTDIF NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Contact us today to schedule your genetic counseling session and testing appointment.
Call or WhatsApp: +1(267) 388-9828
Our dedicated genetic specialists are available to answer your questions and guide you through the testing process. Take control of your neurological health with advanced genetic diagnostics from America’s trusted genetics laboratory.
