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EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

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EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test

Short Name: EIF2B1 VWM NGS Test

Also known as: VWM disease, Vanishing white matter disease, Childhood ataxia with central hypomyelination

EIF2B1 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 Reports are available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS 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 EIF2B1 gene associated with Leukoencephalopathy with vanishing white matter (VWM), providing a definitive diagnosis for individuals with symptoms or a family history of the disorder. It aids in early intervention, genetic counselling, and family planning.

Test Code
1655
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counselling session to draw a pedigree chart of family members affected with VWM is recommended. Provide clinical history of the patient.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique. For FTA card, collect one drop of blood.

Step 3

Report Delivery

Label sample correctly and transport to laboratory at ambient room temperature.

Timeline: Reports are available within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session to discuss family history and test implications. Provide detailed clinical history to the referring physician.
2
During the Test:Sample collection is performed at home or a clinic with minimal discomfort. The process involves a blood draw or using an FTA card.
3
After the Test:Wait for the report, which will be delivered online via portal, email, or WhatsApp. Follow up with the physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the EIF2B1 gene associated with Leukoencephalopathy with vanishing white matter (VWM), providing a definitive diagnosis for individuals with symptoms or a family history of the disorder. It aids in early intervention, genetic counselling, and family planning.

How to Prepare

  • Obtain informed consent
  • Ensure proper sample labeling with patient details
  • Avoid hemolysis during blood collection

Doctor's Notes

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

"This test is essential for confirming VWM diagnosis in children with neurological symptoms, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Blood: Stable at room temperature for 48 hours
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the EIF2B1 gene, which are causative for VWM.
📊

No pathogenic variants detected

Low likelihood of VWM due to EIF2B1 mutations; clinical correlation recommended.

📊

Pathogenic variant detected

Confirmation of VWM diagnosis; genetic counselling and family screening advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms such as loss of motor skills, seizures, or visual impairment are present, or if there is a family history of VWM.

Limitations

  • ⚠May not detect all types of mutations in EIF2B1
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Blood draw: Minor bruising, soreness, or infection risk at puncture site
  • ●FTA card: No significant risks

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is Leukoencephalopathy with vanishing white matter (VWM)?
VWM is a rare genetic disorder affecting the brain's white matter, caused by mutations in genes like EIF2B1, leading to neurological symptoms.
What are the symptoms of VWM?
Common symptoms include loss of motor skills, stiffness, seizures, visual impairment, developmental delay, and behavioral changes, often starting in early childhood.
How is VWM diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS analysis of the EIF2B1 gene, which detects mutations associated with the disorder.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a technology that analyzes multiple genes simultaneously, providing efficient and cost-effective genetic diagnosis.
What is the cost of the EIF2B1 Gene VWM NGS Test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
A blood sample or extracted DNA, or one drop of blood on an FTA card, can be used for testing.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Reports are delivered within 3 to 4 weeks from the date of sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What are the benefits of NGS Genetic Testing for VWM?
Benefits include accurate diagnosis, early symptom management, identification of carriers, and cost-effectiveness compared to traditional methods.
Can this test be used for family planning?
Yes, it helps identify carriers of the genetic mutation, which is important for family planning and genetic counselling.
What should I do if my test result is positive?
Consult a healthcare professional or genetic counsellor to understand the implications, manage symptoms, and consider family screening.
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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