SH3TC2 Gene CMT4C NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SH3TC2 Gene CMT4C NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection capabilities for Charcot-Marie-Tooth disease type 4C. This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the SH3TC2 gene, which plays a critical role in peripheral nerve function and myelination processes.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets and analyzes the SH3TC2 gene for mutations associated with CMT4C, a hereditary motor and sensory neuropathy. The test detects:
- Pathogenic variants in the SH3TC2 gene
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Deletion and duplication mutations
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in hands and feet
- Sensory loss and numbness in extremities
- Foot deformities including high arches and hammertoes
- Difficulty walking or frequent tripping
- Family history of peripheral neuropathy
- Early-onset neurological symptoms in childhood or adolescence
- Unexplained muscle atrophy
- Reduced or absent deep tendon reflexes
Significant Benefits of SH3TC2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CMT4C with high precision
- Early Intervention: Enables proactive management strategies
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Peace of Mind: Reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive reporting includes detailed interpretation of your genetic findings:
- Positive Result: Indicates presence of pathogenic SH3TC2 mutations, confirming CMT4C diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the SH3TC2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals carrying one copy of mutated gene without disease symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed family pedigree chart
- Blood sample collection or extracted DNA submission
- Alternative sample option: One drop of blood on FTA card
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our SH3TC2 Gene CMT4C NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you can take proactive steps toward managing your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment and begin your journey toward accurate diagnosis and personalized care.
