GARS1 Gene CMT2D NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 2D
The GARS1 Gene CMT2D NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Charcot-Marie-Tooth disease type 2D. This advanced testing methodology provides crucial insights for patients and healthcare providers dealing with inherited peripheral neuropathies.
What is the GARS1 Gene CMT2D Test?
This specialized genetic test focuses on analyzing the GARS1 gene, which encodes glycyl-tRNA synthetase – an essential enzyme involved in protein synthesis. Mutations in this gene are directly linked to Charcot-Marie-Tooth disease type 2D (CMT2D), a hereditary motor and sensory neuropathy that primarily affects the peripheral nervous system. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the entire GARS1 gene for pathogenic variants.
What Does the Test Detect?
The GARS1 Gene CMT2D NGS Genetic DNA Test identifies:
- Point mutations in the GARS1 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants associated with CMT2D inheritance
- Genetic markers for autosomal dominant Charcot-Marie-Tooth disease
- Specific mutations impacting peripheral nerve function
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive muscle weakness in hands and feet
- Sensory loss in extremities
- Foot deformities such as high arches or hammertoes
- Difficulty with fine motor skills
- Family history of peripheral neuropathy
- Unexplained walking difficulties or balance problems
- Reduced tendon reflexes
- Muscle atrophy in lower legs and hands
Benefits of GARS1 Genetic Testing
Undergoing the GARS1 Gene CMT2D NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CMT2D with high precision
- Family Planning Guidance: Provides crucial information for genetic counseling
- Treatment Planning: Helps neurologists develop targeted management strategies
- Early Intervention: Enables proactive symptom management
- Genetic Counseling: Supports informed decision-making for at-risk family members
- Disease Progression Monitoring: Establishes baseline for ongoing care
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of a known pathogenic mutation in the GARS1 gene, confirming CMT2D diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines inheritance patterns for family members
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists and neurologists. We recommend discussing results with your healthcare provider and genetic counselor to develop an appropriate management plan.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GARS1 Gene CMT2D 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 GARS1 Gene CMT2D NGS Genetic DNA Test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The GARS1 Gene CMT2D NGS Genetic DNA Test provides definitive answers and empowers you with knowledge about your genetic health. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward understanding your neurological health with confidence and clarity.
Book your GARS1 Gene CMT2D NGS Genetic DNA Test now and receive comprehensive genetic insights from America’s leading neurological genetics laboratory. Our dedicated team ensures personalized care and thorough result interpretation to guide your healthcare journey.
