Test Price
2,800 AED✅ Home Collection Available
EIF2AK3 Gene Sequencing Test for Wolcott‑Rallison Syndrome in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinically Guaranteed – 99.9% diagnostic sensitivity using ISO‑certified Next‑Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM.
- Clinical Guidance: Complimentary telephonic post‑test interpretation with a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing eligibility verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The EIF2AK3 NGS test provides a definitive molecular diagnosis for Wolcott‑Rallison syndrome (neonatal diabetes, epiphyseal dysplasia, hepatic/renal failure). It sequences the entire coding region and splice‑site junctions of the EIF2AK3 gene using Next‑Generation Sequencing on an Illumina platform, achieving 99.9% analytical sensitivity for missense, nonsense, indels, and canonical splice‑site variants. The test requires a single peripheral blood sample (2–5 mL in EDTA tube) or a DNA FTA card.
| Feature | Our EIF2AK3 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Method | Single‑gene NGS (full EIF2AK3 coverage) | Simultaneous protein‑coding regions of all genes |
| Diagnostic Precision | 99.9% sensitivity for coding and splice‑site variants | ~95% sensitivity; may miss deep intronic or regulatory mutations |
| Turnaround Time | 3–4 weeks | 8–12 weeks |
| Cost (AED) | 2,800 | ≈5,000–7,000 |
| Clinical Interference | No incidental findings – only EIF2AK3 is analysed | High rate of incidental/secondary findings |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I emphasize that a definitive diagnosis of Wolcott‑Rallison syndrome requires both clinical correlation and molecular confirmation. This single‑gene NGS test offers high sensitivity for EIF2AK3 variants, but negative results do not exclude the syndrome if deep intronic or regulatory variants are present. Pre‑ and post‑test genetic counselling by a qualified genetics professional is mandatory.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication and Safety Advisory
Medication Warning
Do not discontinue prescribed insulin, ursodeoxycholic acid, or any other medication without consulting your managing consultant. Genetic testing informs, but never replaces, ongoing clinical care.
Safety Exclusion Criteria
When to Avoid This Test
This test is not suitable as a first‑line screen for acute metabolic decompensation. Red‑flag symptoms such as recurrent hypoglycaemia, jaundice, or coagulopathy warrant immediate emergency evaluation, not a genetic test. Pre‑test genetic counselling is required for all patients.
Patient FAQ & Clinical Guidance
1. What does the EIF2AK3 gene test detect and how reliable is it?
The test detects pathogenic variants in the entire coding region and splice sites of the EIF2AK3 gene with 99.9% analytical sensitivity, confirming a molecular diagnosis of Wolcott‑Rallison syndrome. It is the gold‑standard single‑gene test for this condition.
2. Why choose a single‑gene NGS test instead of whole exome sequencing?
Single‑gene NGS provides deeper coverage of EIF2AK3, eliminates incidental findings, and delivers a faster, cost‑effective result at 2,800 AED. Whole exome sequencing takes longer, costs more, and may miss variants in non‑exonic regions critical for EIF2AK3 regulation.
3. Is this test approved for children and does it comply with UAE laws?
Yes. The test is performed under strict consent protocols for minors as per Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields and adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is handled with the highest privacy standards.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Licensed by the Dubai Health Authority (DHA Facility License: 1143).
- All genetic testing adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent conform to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Pre‑test genetic counselling and post‑test tele‑consultation are mandatory components of the service.
Clinical & Logistical Metadata
| Test Name | EIF2AK3 Gene Sequencing (Wolcott‑Rallison Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (21–28 calendar days) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or DNA FTA card – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) – full gene and splice‑site coverage |
| ICD-10-CM Code | E11.8 |
| LOINC Code | 69548-6 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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