LRSAM1 Gene CMT2P NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 2P
The LRSAM1 Gene CMT2P NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection capabilities for Charcot-Marie-Tooth disease type 2P. This advanced testing methodology provides crucial insights for patients and families affected by this inherited peripheral neuropathy, enabling accurate diagnosis and informed medical decision-making.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the LRSAM1 (Leucine Rich Repeat and Sterile Alpha Motif Containing 1) gene, which plays a critical role in neuronal function and peripheral nerve maintenance. The test utilizes Next-Generation Sequencing technology to comprehensively examine the entire coding region of the LRSAM1 gene, identifying:
- Pathogenic mutations associated with CMT2P
- Missense, nonsense, and frameshift variants
- Splice site mutations affecting protein function
- Copy number variations within the LRSAM1 locus
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Charcot-Marie-Tooth disease type 2P, including:
- Progressive muscle weakness in feet and hands
- Foot deformities such as high arches or hammertoes
- Reduced sensation in extremities
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Unexplained progressive walking difficulties
Clinical Benefits of LRSAM1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out CMT2P with high accuracy
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Treatment Optimization: Enables personalized management strategies
- Prognostic Information: Helps predict disease progression and severity
- Early Intervention: Facilitates timely therapeutic interventions
Understanding Your Test Results
Our comprehensive results interpretation includes:
- Positive Result: Indicates presence of pathogenic LRSAM1 mutation, confirming CMT2P diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Professional Genetic Counseling: Included with all test results to ensure proper understanding
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the LRSAM1 Gene CMT2P NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive LRSAM1 genetic testing provides the clarity needed for effective disease management and informed healthcare decisions. With results typically available within 3-4 weeks and professional genetic counseling included, you’ll receive the comprehensive support necessary for navigating Charcot-Marie-Tooth disease type 2P.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online to begin your journey toward definitive diagnosis and personalized care.
