AARS1 Gene CMT2N NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The AARS1 Gene CMT2N NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the AARS1 gene that cause Charcot-Marie-Tooth disease type 2N (CMT2N). This advanced testing methodology provides crucial insights for patients and families affected by inherited peripheral neuropathies, enabling early intervention and personalized treatment strategies.
What Does This Test Measure?
Our specialized genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the AARS1 gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the AARS1 gene
- Small insertions and deletions affecting gene function
- Genetic variations associated with autosomal dominant CMT2N
- Novel mutations that may contribute to peripheral neuropathy symptoms
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in hands and feet
- Foot deformities including high arches or hammertoes
- Decreased sensation in extremities
- Family history of peripheral neuropathy
- Difficulty with balance and coordination
- Muscle atrophy in lower legs and hands
- Reduced or absent reflexes
Clinical Benefits of AARS1 Genetic Testing
Undergoing the AARS1 Gene CMT2N NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of CMT2N before significant disability develops
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes CMT2N from other forms of peripheral neuropathy
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your test outcomes:
- Positive Result: Indicates the presence of a pathogenic AARS1 mutation, confirming CMT2N diagnosis
- Negative Result: Suggests absence of known AARS1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry a mutation that could be passed to offspring
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood |
Pre-Test Requirements
Before scheduling your AARS1 Gene CMT2N NGS Genetic DNA Test, we require:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of a detailed pedigree chart documenting family members affected by neurological symptoms
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Miami, Houston, and Phoenix. Our state-of-the-art laboratories ensure consistent, high-quality genetic analysis with rapid turnaround times.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms affect your quality of life. The AARS1 Gene CMT2N NGS Genetic DNA Test provides definitive answers and empowers you with knowledge to manage your health effectively. Our team of neurologists and genetic specialists are committed to providing compassionate care and comprehensive support throughout your testing journey.
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 health and developing an effective management plan for neurological symptoms.
