Test Price
2,800 AEDโ Home Collection Available
EIF2B4 Gene Sequencing for Leukoencephalopathy with Vanishing White Matter | Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary: This advanced Next-Generation Sequencing (NGS) assay delivers definitive molecular confirmation of pathogenic variants in the EIF2B4 gene associated with Leukoencephalopathy with Vanishing White Matter (VWM). The test provides 99.9% diagnostic sensitivity through ISO 15189 accredited processing. Our integrated care pathway includes VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, followed by post-test telephonic clinical guidance from a Consultant Medical Geneticist and direct insurance billing verification.
- Clinical Utility: Definitive molecular diagnosis for individuals presenting with neurological regression, cerebellar ataxia, or characteristic leukodystrophy patterns on MRI.
- Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all UAE emirates (8 AM โ 11 PM daily).
- Post-Test Support: Telephonic consultation with a Consultant Medical Geneticist for result interpretation and family counseling.
- Insurance Integration: Direct billing verification and pre-authorization support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The EIF2B4 Gene Sequencing test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the coding exons and flanking intronic regions of the EIF2B4 gene. Pathogenic variants in this gene are the established molecular etiology of Leukoencephalopathy with Vanishing White Matter, a severe autosomal recessive neurodegenerative disorder. Early and precise genetic confirmation is critical for guiding clinical management, prognosis, and informed family planning. Our bioinformatics pipeline aligns with DHA and MOHAP standards for clinical diagnostic reporting.
| Feature | Our Test (NGS) | Alternative Methods (Sanger / Targeted Panel) |
|---|---|---|
| Genomic Coverage | Full coding region, splice sites, and deep intronic regions | Limited to hot-spot exons or pre-selected variants |
| Sensitivity & Specificity | 99.9% sensitivity and specificity for SNVs and indels | Lower sensitivity for mosaic or novel variants |
| Turnaround Time | 21โ28 calendar days (expedited options available) | 28โ42 days or longer depending on batch sequencing |
| Genetic Counseling | Integrated pre- and post-test counseling by Consultant Medical Geneticist | Often omitted or referred to external services |
Physician Insight & Safety Protocols
โIn my practice, I have seen how a definitive molecular diagnosis transforms the clinical journey for families navigating the uncertainty of a progressive leukodystrophy. The EIF2B4 gene test provides that clarity with high precision. However, it is essential to correlate the genetic result with the patientโs full clinical phenotype, MRI findings, and biochemical profiles. A genetic variant alone does not dictate clinical decisions. I advise all patients to continue their prescribed therapies and to consult their referring neurologist before initiating any changes based on this laboratory data.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ ๏ธ Medication Advisory
Do not discontinue, alter, or initiate any prescribed medication or therapeutic intervention based solely on the results of this genetic test. All clinical management decisions must be made by your treating physician or specialist neurologist in conjunction with comprehensive clinical evaluation.
Safety Exclusion Criteria & Emergency Red Flags
- This test is not intended for asymptomatic minors without prior neurological evaluation and formal genetic counseling by a qualified specialist.
- Results must not be used as a standalone diagnostic screen; clinical correlation with neuroimaging and physical examination is mandated by DHA clinical governance standards.
- Seek immediate emergency medical attention if new-onset seizures, acute visual disturbance, sudden loss of consciousness, or rapid deterioration of motor function develop.
- Home phlebotomy service may be deferred if the patient is febrile (>38.5ยฐC), in acute neurological crisis, or requires emergency medical intervention.
Patient FAQ & Clinical Guidance
1. What is the EIF2B4 gene test and who should consider it?
This test sequences the entire coding region of the EIF2B4 gene to identify pathogenic mutations responsible for Leukoencephalopathy with Vanishing White Matter. It is clinically indicated for individuals of any age presenting with unexplained neurological regression, cerebellar ataxia, spasticity, or diagnostic MRI findings suggestive of a leukodystrophy. A referral from a neurologist or pediatric neurologist is strongly advised.
2. How is the sample collected and what is the turnaround time?
Sample collection is performed via standard peripheral venipuncture (3โ5 mL whole blood in an EDTA tube) or a single drop of blood on an FTA card. Our VIP Mobile Phlebotomy service can collect the sample at your home or office between 8 AM and 11 PM daily. The turnaround time from sample receipt at our ISO 15189 accredited laboratory is 21 to 28 calendar days. A comprehensive clinical report with variant interpretation will be delivered electronically.
3. Is the test painful and what support is available after the results?
The procedure involves a standard blood draw, which is generally well-tolerated and causes minimal discomfort. Post-test, you will receive a telephonic consultation with our Consultant Medical Geneticist, who will explain the results in detail, discuss inheritance patterns, recurrence risks, and facilitate referrals for family cascade testing or clinical trials if indicated. Genetic counseling is an integral part of this service.
UAE Regulatory & Data Privacy Adherence
Compliance Framework & Trust Assurance
This diagnostic service operates in full compliance with the UAE legislative framework for genetic testing and health data protection. Personal data processing is governed by Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). The use of information and communication technology in health fields adheres to Federal Law No. 2 of 2019. Clinical safety, patient consent, and medical liability are strictly aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability. All laboratory testing is performed under ISO 15189:2022 accreditation standards. Medical content and clinical oversight are provided by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403). The facility operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | EIF2B4 Gene Sequencing โ Leukoencephalopathy with Vanishing White Matter |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 calendar days (expedited processing options available upon request) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Blood Spot. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily (8 AM โ 11 PM). |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full coding region, splice sites, and deep intronic regions with bioinformatic variant annotation. |
| ICD-10-CM Code | E75.2 (Leukodystrophy) |
| LOINC Code | 21665-5 (Sequence analysis of specific gene region) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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