EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test
Understanding EIF2B5 Gene Leukoencephalopathy
EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter is a rare, progressive neurological disorder that primarily affects the brain’s white matter. This condition, also known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH), results from mutations in the EIF2B5 gene, which plays a crucial role in protein synthesis regulation and cellular stress response. The vanishing white matter disease is characterized by the gradual deterioration of myelin, the protective covering of nerve fibers, leading to significant neurological impairment over time.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically targets the EIF2B5 gene to identify pathogenic variants responsible for vanishing white matter disease. The test examines:
- Point mutations in the EIF2B5 coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region variants impacting gene expression
- Compound heterozygous mutations
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive motor deterioration and ataxia
- Developmental regression in childhood
- Episodes of neurological deterioration following minor head trauma or fever
- Spasticity and muscle weakness
- Cognitive decline and learning difficulties
- Optic atrophy and visual impairment
- Family history of leukoencephalopathy or white matter disorders
- Unexplained MRI findings showing white matter abnormalities
Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out EIF2B5-related leukoencephalopathy
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Management: Guides appropriate neurological care and interventions
- Clinical Trial Eligibility: Opens opportunities for emerging treatments
- Psychological Relief: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our comprehensive genetic counseling helps you interpret results effectively:
- Positive Result: Indicates pathogenic mutations in EIF2B5 gene confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in tested regions
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with single mutation copies
All results include detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | EIF2B5 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 provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our EIF2B5 Gene Leukoencephalopathy test provides the clarity needed for proper diagnosis and management. With expert genetic counseling and advanced NGS technology, we deliver accurate results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
