EIF2B3 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test
Comprehensive Genetic Testing for Vanishing White Matter Disease
The EIF2B3 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the EIF2B3 gene, which plays a critical role in protein synthesis regulation and cellular stress response. Vanishing white matter disease, also known as childhood ataxia with central nervous system hypomyelination, is a progressive neurological disorder that primarily affects the brain’s white matter, leading to its gradual deterioration and replacement with cerebrospinal fluid.
What This Test Measures and Detects
Our comprehensive NGS genetic test analyzes the entire coding region of the EIF2B3 gene to identify:
- Pathogenic mutations affecting protein function
- Missense, nonsense, and frameshift variants
- Copy number variations and deletions
- Compound heterozygous mutations
- Novel variants of uncertain significance
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The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic alterations that could contribute to vanishing white matter disease development.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained progressive neurological deterioration
- Childhood-onset ataxia and motor coordination issues
- Cognitive decline with white matter abnormalities on MRI
- Family history of leukoencephalopathy or similar disorders
- Developmental regression following minor head trauma or infections
- Spasticity, optic atrophy, or epilepsy of unknown origin
Significant Benefits of Genetic Testing
Undergoing the EIF2B3 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out vanishing white matter disease
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions
- Treatment Guidance: Assists in developing personalized management strategies
- Early Intervention: Facilitates timely therapeutic approaches
- Genetic Counseling: Provides comprehensive family risk assessment
Understanding Your Test Results
Our expert genetic counselors will help you interpret your results:
- Positive Result: Indicates presence of pathogenic EIF2B3 mutations confirming diagnosis
- Negative Result: Suggests vanishing white matter disease is unlikely due to EIF2B3 mutations
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals at risk of passing mutations to offspring
All results include detailed explanations and recommendations for next steps in management and family screening.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | EIF2B3 Gene Leukoencephalopathy with Vanishing White Matter 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 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive EIF2B3 genetic testing provides the answers you need for informed healthcare decisions. With expert genetic counseling included and state-of-the-art NGS technology, you can trust our accurate and reliable results.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
