Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test
Comprehensive Genetic Testing for Hereditary Neuropathies
The Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test represents a breakthrough in neurological genetic diagnostics, offering comprehensive analysis of over 80 genes associated with hereditary motor and sensory neuropathies. This advanced next-generation sequencing test provides crucial diagnostic information for patients experiencing peripheral nerve disorders, enabling precise diagnosis and personalized treatment approaches.
What This Test Measures and Detects
This comprehensive genetic panel analyzes mutations in key genes responsible for Charcot-Marie-Tooth disease and related sensory neuropathies, including:
- Peripheral Myelin Protein Genes: PMP22, MPZ, GJB1
- Axonal Function Genes: MFN2, NEFL, GARS, HSPB1
- Mitochondrial Function Genes: GDAP1, MFN2, SLC25A46
- Enzymatic and Metabolic Genes: SH3TC2, FIG4, MTMR2
- Transcription Factor Genes: EGR2, SOX10
The test utilizes cutting-edge NGS technology combined with Sanger sequencing confirmation to ensure maximum accuracy and reliability in detecting both common and rare genetic variants associated with hereditary neuropathies.
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive muscle weakness in feet and hands
- Foot deformities (high arches, hammertoes)
- Decreased sensation to touch, temperature, or pain
- Muscle atrophy in lower legs and hands
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Unexplained sensory abnormalities
- Progressive gait abnormalities
- Reduced or absent deep tendon reflexes
Clinical Benefits of Genetic Testing
Undergoing genetic testing for Charcot-Marie-Tooth disease and sensory neuropathies provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out hereditary neuropathy conditions
- Personalized Treatment: Guides targeted therapeutic interventions
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of neurological genetics specialists:
- Positive Result: Indicates presence of pathogenic mutation(s) associated with hereditary neuropathy
- Negative Result: No disease-causing mutations detected in analyzed genes
- Variant of Uncertain Significance: Genetic change identified with unclear clinical implications
- Carrier Status: Identification of recessive mutations without current symptoms
All positive results and variants of uncertain significance receive comprehensive clinical interpretation and genetic counseling recommendations to ensure complete understanding of implications for you and your family.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test – Discount Price | $586 |
| Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test – Regular Price | $650 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Sample Requirements and Processing
Sample Type: Submit 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Turnaround Time: Sample accepted daily by 9 am; Report delivered in 40 working days
Pre-test Requirements: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neuropathy conditions impact your quality of life. Our comprehensive genetic testing provides the answers you need for informed medical decisions and personalized care planning. With advanced NGS technology and expert clinical interpretation, you can trust our testing to deliver accurate, reliable results.
Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic risk for Charcot-Marie-Tooth disease and sensory neuropathies.
