PMP22 Gene CMT1E NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease
The PMP22 Gene CMT1E NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for Charcot-Marie-Tooth disease type 1E. This neurological disorder affects peripheral nerves, leading to progressive muscle weakness and sensory loss. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting PMP22 gene abnormalities, offering patients and healthcare providers critical insights for diagnosis and management.
What Does the PMP22 Gene CMT1E Test Measure?
This comprehensive genetic analysis specifically targets the Peripheral Myelin Protein 22 (PMP22) gene, which plays a crucial role in maintaining the protective myelin sheath around nerve fibers. The test detects:
- Gene duplications and deletions in the PMP22 region
- Point mutations affecting protein function
- Copy number variations associated with CMT1E
- Genetic markers for disease severity and progression
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing:
- Progressive muscle weakness in feet and hands
- Foot deformities such as high arches or hammertoes
- Decreased sensation in extremities
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Unexplained muscle atrophy
- Symptoms beginning in childhood or early adulthood
Clinical Benefits of PMP22 Genetic Testing
Undergoing PMP22 gene testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CMT1E with high precision
- Treatment Guidance: Informs appropriate therapeutic interventions
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps predict disease progression patterns
- Early Intervention: Facilitates timely management strategies
- Family Screening: Identifies at-risk relatives for preventive care
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your PMP22 gene analysis:
- Positive Result: Indicates presence of PMP22 mutation associated with CMT1E
- Negative Result: No detected mutations in the PMP22 gene
- Variant of Unknown Significance: Requires additional clinical correlation
- Carrier Status: Important for family planning considerations
All results are accompanied by detailed explanations and recommendations for next steps. Our genetic counselors are available to help you understand your results and discuss implications for your health and family.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Pre-Test Requirements
Before scheduling your PMP22 Gene CMT1E NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Appropriate sample collection (Blood, Extracted DNA, or Blood on FTA Card)
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The PMP22 Gene CMT1E NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment and take the first step toward understanding your genetic health.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or Blood on FTA Card
