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EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

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EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

Short Name: EIF2B4 VWM NGS Test

Also known as: VWM disease, EIF2B-related leukoencephalopathy, Childhood ataxia with central hypomyelination

EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestPediatric and Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the EIF2B4 gene to confirm diagnosis of leukoencephalopathy with vanishing white matter (VWM), identify carriers, assess risk for family members, and guide treatment and management strategies.

Test Code
1657
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist using standard venipuncture techniques. Ensure proper labeling and handling.

Step 3

Report Delivery

Sample is transported to the lab under ambient room temperature conditions. Monitor for any adverse reactions at the collection site.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks, benefits, and family history. Provide informed consent.
2
During the Test:Blood sample drawn in a clinical or home setting. Minimal discomfort expected.
3
After the Test:Sample processed in lab. Reports delivered in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the EIF2B4 gene to confirm diagnosis of leukoencephalopathy with vanishing white matter (VWM), identify carriers, assess risk for family members, and guide treatment and management strategies.

How to Prepare

  • No fasting required
  • Sample can be blood, extracted DNA, or FTA card with one drop of blood
  • Collection available at home or walk-in centers
  • Ensure sample stability by avoiding hemolysis

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing is essential for confirming VWM diagnosis, guiding management, and family planning. Early detection can improve care outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at 2-8°C for up to 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Sample collected without consent or documentation

Understanding Your Results

Results from the EIF2B4 gene NGS test should be interpreted by a geneticist or neurologist. Positive results indicate mutations associated with VWM, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of VWM. Genetic counseling recommended for family.

📊

Likely pathogenic variant

Strong indication of VWM. Follow-up with clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed. Consult a genetic counselor.

📊

No pathogenic variant detected

VWM due to EIF2B4 mutations is unlikely. Consider other genetic causes or re-evaluate clinical diagnosis.

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms like progressive neurological decline, family history of VWM, or abnormal brain MRI findings. After test results, seek genetic counseling for interpretation and management.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results are for diagnostic confirmation and not for prognosis

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Very low risk of infection or hematoma
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume
  • ●Presence of interfering substances in blood

Frequently Asked Questions

What is the EIF2B4 Gene VWM NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the EIF2B4 gene associated with leukoencephalopathy with vanishing white matter (VWM).
Why is this test recommended?
It is recommended to confirm diagnosis of VWM, especially in individuals with neurological symptoms like difficulty walking, seizures, or cognitive decline.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture. It can also be extracted DNA or a drop on an FTA card.
Is fasting required for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Positive results indicate mutations linked to VWM. Genetic counseling is essential for interpretation.
Can this test be done at home?
Yes, free home sample collection is offered for online bookings.
Is the test accurate?
Yes, it uses NGS technology with high sensitivity and specificity for detecting mutations.
Who should take this test?
Individuals with suspected VWM, family history, or neurological symptoms, as advised by a neurologist or geneticist.
Are there any risks involved?
Risks are minimal, mainly related to blood draw, such as slight pain or bruising.
How can I prepare for the test?
No special preparation is needed. Attend a genetic counseling session if recommended.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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