PMP22 Gene CMT1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 1A
The PMP22 Gene CMT1A NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Charcot-Marie-Tooth disease type 1A. This advanced genetic screening utilizes next-generation sequencing technology to provide comprehensive analysis of the PMP22 gene, which plays a critical role in peripheral nerve function and myelination.
What Does This Test Measure?
This sophisticated genetic test specifically targets and analyzes the PMP22 (Peripheral Myelin Protein 22) gene for:
- Detection of PMP22 gene duplications responsible for CMT1A
- Identification of point mutations and deletions in the PMP22 gene
- Comprehensive analysis of gene copy number variations
- Assessment of genetic variants affecting peripheral nerve function
- Evaluation of hereditary neuropathy predisposition
Who Should Consider This Test?
This genetic screening is recommended for individuals experiencing:
- Progressive muscle weakness in feet and hands
- Foot deformities such as high arches or hammertoes
- Decreased sensation or numbness in extremities
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Unexplained muscle atrophy in lower limbs
- Delayed motor development in children
- Symptoms consistent with hereditary neuropathies
Key Benefits of PMP22 Genetic Testing
- Accurate Diagnosis: Provides definitive identification of CMT1A genetic mutations
- Family Planning: Enables informed reproductive decisions for affected families
- Early Intervention: Facilitates timely management and treatment planning
- Symptom Management: Guides appropriate therapeutic interventions
- Genetic Counseling: Supports comprehensive family risk assessment
- Disease Progression Monitoring: Establishes baseline for ongoing care
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates presence of PMP22 gene mutation consistent with CMT1A diagnosis
- Negative Result: Suggests absence of detectable PMP22 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PMP22 Gene CMT1A 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 PMP22 genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Neurological examination and assessment
- Discussion of potential outcomes and management options
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in 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 laboratories ensure consistent, high-quality results regardless of testing location.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neuropathy symptoms affect your quality of life. The PMP22 Gene CMT1A NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of Charcot-Marie-Tooth disease. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health with confidence and precision.
