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EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

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EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

Short Name: VWM NGS Genetic Test

Also known as: Vanishing White Matter Disease, Childhood Ataxia with Central Hypomyelination, CACH/VWM

EIF2B3 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 samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestUnisex🏠 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

To identify mutations in the EIF2B3 gene for diagnosing vanishing white matter disease, aiding in clinical management and genetic counseling.

Test Code
1663
Price
₹20,000
Sample Type
Blood or Extracted DNA
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Avoid heavy lifting with that arm for a few hours.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation required. Inform the healthcare provider about any medications or medical conditions.
2
During the Test:A blood sample will be drawn from a vein in your arm. The procedure takes a few minutes.
3
After the Test:Apply pressure to the puncture site to stop bleeding. Avoid heavy lifting with that arm for a few hours.

About This Test

Who Should Get This Test

To identify mutations in the EIF2B3 gene for diagnosing vanishing white matter disease, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Early diagnosis through genetic testing is key for managing VWM and providing appropriate care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA
Sample Volume2-3 ml
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample: stable for 48 hours at 2-8°C
Extracted DNA: stable for longer at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare provider. A positive result indicates the presence of mutations in the EIF2B3 gene.
Consult with a genetic counselor for detailed explanation
Consider family testing if a mutation is found
Results guide treatment and management plans
⚠️ When to Consult a Doctor:

If you or a family member experiences symptoms of vanishing white matter disease, such as progressive neurological deterioration, seizures, or developmental delays, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a geneticist
  • ⚠Positive result indicates carrier or affected status

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection
  • ●Discomfort during blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is the EIF2B3 Gene Leukoencephalopathy Test?
It is a genetic test that uses NGS technology to detect mutations in the EIF2B3 gene, which cause vanishing white matter disease.
What are the symptoms of vanishing white matter disease?
Symptoms include difficulty walking, loss of vision, seizures, behavioral changes, developmental delays, intellectual disability, headaches, and progressive muscle weakness.
How is the test performed?
A blood sample is collected, and DNA is extracted for analysis using Next-Generation Sequencing.
What is the cost of the test?
The test costs INR 20,000, which includes genetic counseling and follow-up.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to receive results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates the presence of mutations in the EIF2B3 gene, confirming a diagnosis of VWM or carrier status.
Is the test covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider.
Are there any risks associated with the test?
The test involves a standard blood draw, which has minimal risks such as bruising or infection at the puncture site.
Can adults undergo this test?
Yes, the test is suitable for all ages, as VWM can present in childhood or later in life.
What is vanishing white matter disease?
It is a rare genetic disorder that affects the brain's white matter, leading to neurological deterioration, often triggered by stressors like fever or trauma.
How can I prepare for the test?
No special preparation is required. Inform your healthcare provider about any medications or medical conditions.
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.

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✓ 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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