EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
Short Name: EIF2B5 VWM NGS Test
Also known as: VWM Disease, Childhood Ataxia with Central Hypomyelination, eIF2B-related disorder
EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS Genetic Test is to confirm the diagnosis of vanishing white matter disease by detecting mutations in the EIF2B5 gene. It helps in differentiating VWM from other leukoencephalopathies, guiding therapeutic interventions, assessing recurrence risk in families, and enabling informed decision-making for patient care and genetic counseling.
- Test Code
- 1662
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling is recommended to discuss implications, and provide clinical and family history details.
Method: Venipuncture or capillary blood on FTA card
Laboratory Analysis
Standard blood draw procedure using venipuncture or FTA card for capillary blood collection.
Report Delivery
Label the sample correctly, store at ambient temperature, and ship to the laboratory promptly for processing.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS Genetic Test is to confirm the diagnosis of vanishing white matter disease by detecting mutations in the EIF2B5 gene. It helps in differentiating VWM from other leukoencephalopathies, guiding therapeutic interventions, assessing recurrence risk in families, and enabling informed decision-making for patient care and genetic counseling.
How to Prepare
- Ensure patient identification and proper labeling of sample tubes.
- Use aseptic technique to avoid contamination.
- For FTA cards, apply one drop of blood and let it dry completely.
- Store samples at room temperature and avoid extreme temperatures.
- Include completed requisition form with clinical details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for vanishing white matter disease aids in symptom management, prognostic assessment, and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled or unlabeled specimens
- Samples received after stability period
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of EIF2B5-related leukoencephalopathy with vanishing white matter. Genetic counseling and family screening recommended.
Variant of uncertain significance (VUS)
Further clinical correlation and functional studies may be needed. Consult with a geneticist for management.
No pathogenic variant detected
Does not rule out VWM if clinical suspicion remains high; consider other genetic tests or repeat analysis with additional methods.
Consult a neurologist or geneticist if symptoms such as progressive neurological decline, ataxia, seizures, or cognitive impairment are present, especially with a family history of similar disorders. Early consultation facilitates timely diagnosis and intervention.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or deep intronic mutations
- ⚠Requires correlation with clinical symptoms and neuroimaging for full interpretation
- ⚠Does not assess other genes associated with similar neurological disorders
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising, infection, or discomfort.
- ●Psychological impact of genetic results; genetic counseling can provide support.
Interfering Factors
- ●Poor sample quality or hemolysis
- ●Contamination during collection or transport
- ●Insufficient DNA yield
Compare With Similar Tests
| Test | EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test | MRI Brain | Targeted gene panel | Biochemical tests |
|---|---|---|---|---|
| Comparison | EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test |
Frequently Asked Questions
What is EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter?
What are the common symptoms of VWM disease?
How is VWM disease diagnosed?
What does the NGS Genetic Test for EIF2B5 involve?
How much does the EIF2B5 NGS Genetic Test cost at DNA Labs India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What should I do before taking the test?
Are there any risks associated with this genetic test?
How accurate is the NGS Genetic Test for VWM disease?
Can this test be used for family planning purposes?
What are the treatment options for VWM disease?
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