EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
Short Name: EIF2B2 Gene VWM NGS Test
Also known as: VWM Disease Genetic Test, EIF2B2 Gene Mutation Analysis, Vanishing White Matter Disease DNA Test, Childhood Ataxia with Central Hypomyelination Genetic Test, EIF2B-Related Leukoencephalopathy NGS Panel
EIF2B2 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 Results are typically available within 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 the EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the EIF2B2 gene that are responsible for vanishing white matter disease. This test serves as a definitive diagnostic tool when clinical presentation, neuroimaging findings (particularly MRI showing characteristic white matter abnormalities), and family history are suggestive of VWM disease. It enables confirmation of diagnosis, differentiation from other leukoencephalopathies, carrier detection in family members, prenatal or preimplantation genetic diagnosis for at-risk families, and informed clinical management including avoidance of physiological stressors that may trigger acute neurological episodes.
- Test Code
- 1668
- CPT Code
- 81479
- ICD Code
- E75.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. A genetic counselling session is recommended prior to testing to document a detailed clinical history and draw a pedigree chart of family members affected with EIF2B2 gene leukoencephalopathy with vanishing white matter disease. Ensure that the patient or guardian has provided informed consent for genetic testing.
Method: Venipuncture
Laboratory Analysis
A blood sample of approximately 3-5 mL will be collected via venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The collection procedure follows standard phlebotomy protocols.
Report Delivery
Label the sample correctly with patient demographics and transport to the laboratory at ambient room temperature. Sample should reach the testing laboratory within 48 hours of collection. Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the EIF2B2 gene that are responsible for vanishing white matter disease. This test serves as a definitive diagnostic tool when clinical presentation, neuroimaging findings (particularly MRI showing characteristic white matter abnormalities), and family history are suggestive of VWM disease. It enables confirmation of diagnosis, differentiation from other leukoencephalopathies, carrier detection in family members, prenatal or preimplantation genetic diagnosis for at-risk families, and informed clinical management including avoidance of physiological stressors that may trigger acute neurological episodes.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer under aseptic conditions
- Alternatively, one drop of blood on FTA card or extracted DNA (minimum 50 ng/µL) may be submitted
- Gently invert the EDTA tube 8-10 times immediately after collection to prevent clotting
- Label the sample with patient full name, date of birth, unique identification number, and date/time of collection
- Transport the sample at ambient room temperature (15°C to 30°C) to the laboratory
- Do not freeze the blood sample
- Ensure the requisition form includes clinical history, pedigree information, and signed informed consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Vanishing white matter disease is one of the most prevalent inherited leukoencephalopathies. Genetic confirmation through NGS of the EIF2B2 gene is essential for accurate diagnosis, genetic counselling, and family planning. Early identification allows clinicians to advise patients and families on avoiding physiological stressors such as fever, head trauma, and acute fright, which are known to trigger rapid neurological deterioration in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Clotted, haemolysed, or visibly contaminated blood sample
- Sample collected in incorrect container (e.g., heparin tube instead of EDTA)
- Insufficient sample volume for DNA extraction
- Sample received without completed requisition form or informed consent
- Sample received more than 72 hours after collection without prior arrangement
Understanding Your Results
Pathogenic Variant Detected
One or more pathogenic variants identified in the EIF2B2 gene. In an autosomal recessive condition, biallelic (homozygous or compound heterozygous) pathogenic variants confirm the diagnosis of VWM disease. A single heterozygous pathogenic variant indicates carrier status.
Likely Pathogenic Variant Detected
One or more likely pathogenic variants identified. Strong supporting evidence for a disease-causing role exists but may require additional confirmation through family segregation studies or functional assays.
Variant of Uncertain Significance (VUS)
A variant was identified that currently lacks sufficient evidence to classify it as pathogenic or benign. Clinical correlation, family studies, and periodic reanalysis are recommended.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the EIF2B2 gene. This result does not completely exclude VWM disease, as mutations in other EIF2B genes or other genetic causes may be responsible. Clinical correlation and consideration of expanded gene panel testing are advised.
Consult a neurologist or clinical geneticist if the test identifies any pathogenic or likely pathogenic variant, if a variant of uncertain significance is detected, or if the clinical symptoms persist despite a negative result. Early genetic counselling is recommended for family members who may be carriers and for reproductive planning in families with confirmed VWM disease.
Limitations
- ⚠This test analyses only the EIF2B2 gene; mutations in other EIF2B genes (EIF2B1, EIF2B3, EIF2B4, EIF2B5) are not assessed by this single-gene test
- ⚠Large genomic deletions, duplications, or structural rearrangements may not be detected by NGS alone and may require additional methods such as MLPA or chromosomal microarray
- ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing region may not be identified
- ⚠A negative result does not exclude VWM disease if caused by mutations in other EIF2B subunit genes or other genetic loci
- ⚠Variants of uncertain significance (VUS) may be identified and may require further studies or family segregation analysis for reclassification
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Psychological impact of genetic test results, which may require counselling support
- ●Risk of identifying variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Contaminated or degraded DNA samples may affect sequencing quality
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Insufficient sample volume may necessitate repeat collection
- ●Haemolysed or clotted blood samples may yield suboptimal DNA extraction
Compare With Similar Tests
| Test | EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test | EIF2B5 Gene VWM NGS Genetic Test | VWM Multi-Gene Panel (EIF2B1-5) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test | EIF2B5 is the most commonly mutated gene in VWM disease. Testing EIF2B2 is recommended when EIF2B5 testing is negative but clinical suspicion remains high. | A comprehensive panel that analyses all five EIF2B genes simultaneously. Recommended as a first-line test when the specific causative gene is unknown, as it has a higher diagnostic yield than single-gene testing. | WES analyses all protein-coding genes and may identify VWM-causing mutations along with variants in other genes. Useful when targeted gene testing is inconclusive or when the phenotype overlaps with other conditions. |
Frequently Asked Questions
What is the EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic Test?
Who should consider getting this genetic test?
What sample is required for this test?
How long does it take to get the results?
What is the cost of the EIF2B2 Gene VWM NGS Genetic Test?
Is the test covered by health insurance or government schemes?
What does a positive result mean?
What does a negative result mean?
Can this test be used for prenatal diagnosis?
Is home sample collection available for this test?
What is vanishing white matter (VWM) disease?
Do I need genetic counselling before and after the test?
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