EGR2 Gene CMT1D NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 1D
The EGR2 Gene CMT1D NGS Genetic DNA Test represents a significant advancement in neurological genetic diagnostics, specifically designed to identify mutations in the Early Growth Response 2 (EGR2) gene associated with Charcot-Marie-Tooth disease type 1D. This inherited peripheral neuropathy affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. Early and accurate diagnosis through this sophisticated genetic test can dramatically impact treatment outcomes and quality of life for affected individuals.
What Does the EGR2 Gene CMT1D Test Measure?
This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the EGR2 gene for pathogenic variants that cause CMT1D. The test specifically detects:
- Point mutations and small insertions/deletions in the EGR2 gene coding regions
- Genetic variations affecting myelin protein zero (MPZ) expression regulation
- Mutations that disrupt peripheral nerve myelination processes
- Inherited genetic patterns associated with autosomal dominant CMT1D
Who Should Consider EGR2 Gene CMT1D Testing?
This genetic test is particularly recommended for individuals experiencing:
- Progressive muscle weakness in feet, legs, hands, and arms
- Sensory loss including reduced ability to feel pain, temperature, or touch
- Foot deformities such as high arches or hammertoes
- Difficulty walking or frequent tripping
- Family history of Charcot-Marie-Tooth disease or similar neurological conditions
- Unexplained peripheral neuropathy symptoms
- Children showing delayed motor development milestones
Key Benefits of EGR2 Gene CMT1D NGS Testing
Choosing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before significant nerve damage occurs
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Progression Monitoring: Establishes baseline for ongoing neurological assessment
- Differential Diagnosis: Helps distinguish CMT1D from other neuromuscular disorders
- Research Contribution: Advances understanding of EGR2-related neurological conditions
Understanding Your Test Results
Your EGR2 Gene CMT1D NGS Genetic DNA Test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of a pathogenic EGR2 mutation associated with CMT1D. This confirms diagnosis and enables targeted management strategies.
- Negative Result: Suggests no detectable EGR2 mutations, though other genetic or acquired causes of neuropathy should still be considered.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies.
- Carrier Status: May identify individuals who carry the mutation but may not show symptoms, important for family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | EGR2 Gene CMT1D 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 |
| Specialty | Neurology, Genetics |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of neurological symptoms
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with qualified genetic counselor
- Review of potential psychological and social impacts of test results
- Informed consent process explaining benefits, limitations, and alternatives
Nationwide Testing Availability
We proudly offer the EGR2 Gene CMT1D NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our network includes testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the same high standards of genetic testing excellence and patient care.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The EGR2 Gene CMT1D NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment approaches. Our team of genetic specialists, neurologists, and certified genetic counselors are ready to support you through every step of the testing process.
Book your EGR2 Gene CMT1D NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic predisposition to neurological disorders and accessing targeted care strategies.
