EGR2 Gene Dejerine-Sottas Disease Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

Clinical Excellence Summary

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139)
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Clinical Guidance: Telephonic Post-Test Genetic Counseling by a DHA-licensed Consultant Medical Genetics
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731

Core Metrics

Price: 2800 AED
Turnaround Time: 3–4 Weeks
Sample Type: Whole Blood (EDTA) or Extracted DNA
Methodology: Next-Generation Sequencing (NGS) on Illumina Platform

Test Overview & Methodology

The EGR2 gene NGS test provides comprehensive sequencing of the early growth response 2 gene to confirm Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). This diagnostic analysis offers definitive genetic confirmation, enabling neurologists to develop tailored treatment plans and provide accurate recurrence risk counseling for families. Next-generation sequencing technology covers the full coding region and splice sites, detecting both known and novel pathogenic variants with superior analytical sensitivity.

Feature	Our NGS Test	Closest Alternative (Single-Gene Sanger)
Target Gene Coverage	Full EGR2 gene (coding + splice sites)	Limited to known mutations only
Methodology	Next-Generation Sequencing (NGS) with Illumina Platform	Sanger Sequencing
Analytical Sensitivity	99.9% (validated against reference standards)	~95% (misses novel variants)
Turnaround Time	3–4 Weeks	4–6 Weeks
ISO Accreditation	ISO 9001:2015 Certified	Often not certified
Price	2800 AED	Varies (often ≥ 2500 AED)

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403):

“Genetic confirmation of Dejerine-Sottas disease through comprehensive EGR2 sequencing provides clarity for patients and families navigating a challenging diagnosis. However, results must always be interpreted alongside a complete clinical evaluation, electrophysiological studies, and a detailed family history. I recommend that all patients undergo pre-test and post-test genetic counseling to fully understand the implications of their results, including recurrence risks and potential for targeted therapies. This test is a powerful tool, but it is one piece of a larger diagnostic picture.”

Clinical Advisory & Medication Guidance

⚠️ Important Clinical Advisory

Do not discontinue, modify, or initiate any prescribed medication based solely on genetic test results without direct consultation with your treating physician. Genetic findings provide diagnostic and prognostic information but do not replace comprehensive clinical judgment. Always maintain your current treatment regimen until your healthcare provider advises otherwise.

Safety Exclusion Criteria & Emergency Red Flags

Exclusion Criteria

Patients with active, unstable medical conditions requiring urgent intervention.
Inability to provide informed consent (legal guardian consent required for minors under Federal Decree-Law No. 4 of 2016 on Medical Liability).
Insufficient DNA quantity or quality upon sample receipt.

Emergency Red Flags

Sudden worsening of muscle weakness.
Difficulty breathing or swallowing.
Severe or escalating neuropathic pain.

These symptoms require immediate emergency medical evaluation. Do not wait for genetic test results.

Patient FAQ & Clinical Guidance

1. What is the EGR2 gene test for Dejerine-Sottas disease and how does NGS improve accuracy?

The EGR2 gene test uses next-generation sequencing to detect mutations causing Dejerine-Sottas disease, a severe hereditary neuropathy, with over 99.9% analytical sensitivity. NGS sequences the entire gene, identifying both known and novel variants that single-gene methods may miss, providing a definitive molecular diagnosis essential for clinical management and family planning.

2. How should I prepare for the EGR2 NGS test and what samples are accepted?

No fasting or medication adjustment is required unless directed by your physician. Provide a detailed clinical history and attend a genetic counseling session to document a pedigree of family members affected with Dejerine-Sottas disease. Acceptable samples include whole blood (1–2 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card, all handled with ISO-certified cold chain logistics. Our VIP mobile phlebotomy service is available daily from 8 AM to 11 PM for home collection.

3. What do positive or negative EGR2 NGS results mean for my health and family?

A positive result confirms a pathogenic EGR2 mutation, establishing the genetic cause of the neuropathy and enabling accurate genetic counseling regarding inheritance patterns (autosomal dominant or recessive) and recurrence risks. A negative result reduces but does not exclude other genetic causes; further panel testing or whole-exome sequencing may be recommended. All results should be discussed with your neurologist or genetic counselor for tailored interpretation.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance Framework

This test adheres strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability governing clinical safety and patient consent.
Patient data processed under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) with end-to-end encryption; genetic data stored in UAE-based ISO-certified servers.
Health information managed in compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
DHA Facility License: 1143 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.

Clinical & Logistical Metadata

Test Name	EGR2 Gene Sequencing for Dejerine-Sottas Disease (HMSN Type III)
Price (AED)	2800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily (8 AM – 11 PM)
Methodology Used	Next-Generation Sequencing (NGS) on Illumina Platform with Full Coding Region and Splice Site Coverage
ICD-10-CM Code	G60.0 (Hereditary motor and sensory neuropathy, Dejerine-Sottas disease)
LOINC Code	21663-4 (Gene mutation analysis)
DHA Facility License & Laboratory Address	DHA License: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE