Test Price
2,800 AEDโ Home Collection Available
EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter (VWM) NGS Genetic Test โ Dubai, UAE
Executive Summary & Core Metrics
Comprehensive Molecular Confirmation for VWM
- 99.9% Diagnostic Sensitivity โ ISO 9001:2015 certified next-generation sequencing delivers ultra-high accuracy for EIF2B2 variant detection across the full coding region and splice sites.
- Premium Logistics โ DHA-licensed VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM, preserving DNA integrity throughout transport.
- Clinical Guidance โ Complimentary post-test teleconsultation with a consultant medical geneticist to interpret results, discuss inheritance patterns, and plan family screening.
- Insurance Support โ Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The EIF2B2 NGS test is a definitive genetic analysis for leukoencephalopathy with vanishing white matter, a severe autosomal recessive disorder characterised by progressive neurological deterioration and characteristic white matter rarefaction on MRI. Using next-generation sequencing on the Illuminaยฎ platform, the entire coding region and flanking splice sites of the EIF2B2 gene are interrogated. This enables molecular confirmation of clinical diagnosis, identification of carrier status in at-risk family members, and informed reproductive counselling. Variant classification follows ACMG/AMP guidelines and is reviewed by board-certified clinical geneticists.
| Feature | Our Test (NGS) | Sanger Sequencing Only |
|---|---|---|
| Gene Coverage | Full EIF2B2 coding region + splice sites | Selected exons only |
| Sensitivity | >99.9% for single nucleotide variants and indels | ~95%, may miss deep intronic changes |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Method | NGS (Illuminaยฎ), clinically validated | Capillary electrophoresis |
| Price | AED 2,800 | AED 3,500+ |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I often counsel families navigating the uncertainty of a vanishing white matter diagnosis. This targeted EIF2B2 sequencing provides the molecular clarity needed to confirm the condition, differentiate it from other leukoencephalopathies, and guide family planning decisions. Every result is interpreted with the utmost care and communicated with compassion, ensuring you and your loved ones receive the support you deserve.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Safety Guidance
This genetic test is intended for stable, non-acute patients who require molecular confirmation of leukoencephalopathy with vanishing white matter. It supports diagnostic clarity, carrier detection, and reproductive risk assessment. Do not discontinue any prescribed medications without consulting your treating neurologist, even if a positive genetic result is returned. The test complements โ but does not replace โ ongoing clinical monitoring and neuroimaging surveillance.
Safety & Exclusion Criteria
- Not appropriate for patients experiencing an acute neurological crisis (e.g., sudden encephalopathy, uncontrolled seizures, loss of consciousness) โ seek immediate emergency care at the nearest hospital.
- Informed consent is mandatory; patients unable to provide consent must have a legally authorised representative in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Avoid testing if there is an active local or systemic infection that could compromise the safety of venipuncture; a fingerstick FTA card may be used as an alternative when clinically appropriate.
- Emergency red flags: sudden worsening of cognitive function, severe headache, visual disturbances, or acute motor deterioration โ proceed immediately to the nearest emergency room for evaluation.
Patient FAQ & Clinical Guidance
1. What is the EIF2B2 NGS test, and why is it recommended?
This next-generation sequencing test detects pathogenic variants in the EIF2B2 gene, which cause leukoencephalopathy with vanishing white matter โ a rare autosomal recessive disorder. It is recommended for individuals with progressive neurological symptoms such as ataxia, spasticity, and characteristic white matter changes on brain MRI. The test also serves at-risk family members for carrier screening and enables informed reproductive counselling. Results empower your healthcare team to establish a precise diagnosis and tailor a personalised care plan.
2. How is the sample collected, and is it painful?
A DHA-licensed phlebotomist collects a peripheral whole blood sample or a fingerstick FTA card during a scheduled home visit. Venipuncture is quick โ typically under 10 minutes โ and uses standard sterile technique. For those who prefer a less invasive option, the FTA card requires only a single finger prick with no needle. All samples are transported in temperature-controlled cold-chain packaging to guarantee DNA stability from collection to laboratory processing.
3. How long do results take, and who explains them to me?
Results are reported within 3โ4 weeks from sample receipt. A board-certified consultant medical geneticist and a genetic counsellor review your report together, classify variants according to ACMG/AMP guidelines, and schedule a confidential telehealth consultation. During this appointment, the findings, their clinical implications, and any recommended follow-up actions for you and your family members will be discussed in clear, understandable language.
4. Can this test be used for prenatal diagnosis?
The test is validated on postnatal blood or FTA card samples. If prenatal diagnosis is being considered, a separate procedure involving chorionic villus sampling or amniocentesis is required, and results should be interpreted in conjunction with a maternal-fetal medicine specialist and a medical geneticist. We can coordinate the appropriate referral pathway upon request.
5. Does insurance cover the cost of this genetic test?
Coverage varies by insurance provider and policy. Our team can perform a direct billing verification via WhatsApp at +971 54 548 8731 before the test is scheduled. Many UAE-based insurers provide partial or full coverage for molecular genetic testing when ordered by a qualified specialist and accompanied by appropriate clinical documentation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
- Data Privacy: All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Your genomic information is encrypted, access-controlled, and never shared with third parties without your explicit consent.
- Health Information Governance: The laboratory adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and auditable data trails for every test result.
- Medical Liability: All clinical procedures, including sample collection and result disclosure, are conducted under the framework of Federal Decree-Law No. 4 of 2016 on Medical Liability, safeguarding patient rights and ensuring accountability.
- Accreditation: The laboratory holds ISO 9001:2015 certification and operates under the regulatory oversight of the Dubai Health Authority (DHA) and the Ministry of Health and Prevention (MOHAP).
Clinical & Logistical Metadata
| Test Name | EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter (VWM) NGS Genetic Test |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card (Fingerstick) |
| Methodology Used | Next-Generation Sequencing (NGS, Illuminaยฎ Platform) โ Full Coding Region & Splice Sites |
| ICD-10-CM Code | G93.81 (Leukoencephalopathy with vanishing white matter) |
| LOINC Code | 101398-1 (EIF2B2 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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