EIF2B4 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic DNA Test
Understanding EIF2B4 Gene Leukoencephalopathy
EIF2B4 Gene Leukoencephalopathy with Vanishing White Matter is a rare, progressive neurological disorder that affects the brain’s white matter. This condition, also known as childhood ataxia with central nervous system hypomyelination (CACH), is caused by mutations in the EIF2B4 gene, which plays a critical role in protein synthesis regulation and cellular stress response. The vanishing white matter disease typically presents in childhood and leads to the gradual deterioration of the brain’s myelin sheath, resulting in significant neurological impairment.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the EIF2B4 gene to identify pathogenic variants responsible for vanishing white matter disease. The test examines:
- Complete sequencing of the EIF2B4 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with leukoencephalopathy
- Assessment of variant pathogenicity through comprehensive bioinformatics analysis
- Evaluation of inheritance patterns for genetic counseling purposes
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive neurological deterioration in childhood
- Motor coordination difficulties and ataxia
- Cognitive decline and learning disabilities
- Episodes of neurological deterioration following minor head trauma or fever
- Family history of leukoencephalopathy or vanishing white matter disease
- Unexplained white matter abnormalities on brain MRI scans
- For prenatal diagnosis in families with known EIF2B4 mutations
Key Benefits of Genetic Testing
Undergoing the EIF2B4 Gene Leukoencephalopathy test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out vanishing white matter disease
- Early Intervention: Enables timely management and treatment planning
- Family Planning: Provides crucial information for reproductive decisions
- Genetic Counseling: Helps understand inheritance patterns and recurrence risks
- Personalized Care: Guides appropriate neurological management strategies
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates the presence of pathogenic EIF2B4 mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other causes
- Variant of Uncertain Significance: Requires further investigation and family studies
- Carrier Status: Identifies individuals who carry one copy of the mutation
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | EIF2B4 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Previous neurological evaluations and MRI reports if available
Nationwide Accessibility
We proudly serve patients across the United States with convenient 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 state-of-the-art genetic testing facilities ensure consistent, high-quality results nationwide.
Take the Next Step Toward Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive EIF2B4 Gene Leukoencephalopathy test provides the answers you need for proper diagnosis and management. With advanced NGS technology and expert genetic counseling, we deliver reliable results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your results.
