EGR2 Gene CMT1D Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

This next-generation sequencing (NGS) test comprehensively analyzes the EGR2 gene for pathogenic variants linked to Charcot-Marie-Tooth disease type 1D (CMT1D), a progressive hereditary neuropathy. With 99.9% diagnostic sensitivity, it delivers definitive genetic insights for personalized neurological care.

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO accredited processing.
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 included.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This NGS test provides comprehensive coverage of the EGR2 gene, including all coding exons and flanking intronic regions, with copy number variant (CNV) detection. It identifies pathogenic variants responsible for Charcot-Marie-Tooth disease type 1D, a severe peripheral neuropathy characterized by distal muscle weakness, sensory loss, and foot deformities. The test is indicated for individuals with clinical suspicion of CMT1D, positive family history, or prior inconclusive genetic analysis.

Feature	Our Test (NGS Full Gene Analysis)	Conventional Sanger Sequencing
Precision	99.9% analytical sensitivity; detects all coding variants and CNVs	Limited to known hotspot regions; no CNV detection
Method	Next-Generation Sequencing (NGS) with copy number analysis	Sanger sequencing of exons
Turnaround Time	3–4 weeks	4–6 weeks
Cost (AED)	2,800	3,500+ (limited coverage)

Physician Insight & Safety Protocols

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

"This NGS test for the EGR2 gene is a critical tool in diagnosing Charcot-Marie-Tooth disease type 1D. A positive result must be correlated with clinical findings and family history; genetic counseling is essential for informed decision-making. I emphasize that this test is a powerful diagnostic aid, but a negative result does not rule out other genetic causes of CMT. Comprehensive evaluation remains paramount."

Advisory & Safety Precautions

⚠️ Do not discontinue any prescribed medication without consulting your doctor. This test is for diagnostic confirmation only and should not be used to alter ongoing treatment without specialist advice.

Safety Exclusion & Emergency Red Flags

Exclusion: Not indicated for asymptomatic minors without informed parental consent and pre-test genetic counseling as per Federal Decree-Law No. 4 of 2016 on Medical Liability and informed consent requirements.
Exclusion: This test does not replace a comprehensive neurological evaluation; clinical correlation is mandatory.
ER Red Flag: Seek immediate emergency care if you develop sudden weakness, respiratory difficulty, or loss of limb function after sample collection or during your diagnostic journey.

Patient FAQ & Clinical Guidance

1. What is the EGR2 Gene CMT1D Genetic Test?

This next-generation sequencing test identifies mutations in the EGR2 gene that cause Charcot-Marie-Tooth disease type 1D, a progressive nerve disorder. It provides a definitive genetic diagnosis for patients with clinical symptoms or family history, enabling personalized management and family planning.

2. How is the sample collected for this test?

Sample collection is via a simple blood draw or finger‑prick FTA card. Our certified phlebotomist visits your home between 8 AM and 11 PM, using temperature‑controlled cold‑chain transport to maintain sample integrity. No special preparation is required.

3. What is the turnaround time and how will I receive my results?

Test results are available within 3 to 4 weeks, accompanied by a detailed genetic counseling session. Results are delivered via a secure, encrypted online portal. A telephonic post‑test consultation is provided to explain findings and recommend next steps.

4. Who should consider this genetic test?

Individuals with clinical features suggestive of CMT1D (progressive distal weakness, sensory loss, foot deformities) or a family history of Charcot-Marie-Tooth disease. It is also indicated for couples planning a family with a known CMT1D genetic history.

5. Is genetic counseling included with this test?

Yes, pre‑test and post‑test genetic counseling is included for all patients. Our consultant geneticist will explain the implications of the results, inheritance patterns, and available management options.

UAE Regulatory & Data Privacy Adherence

Your Data. Our Commitment.

DNA Labs UAE operates under DHA Facility License Number 1143. We comply fully with:

Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring the security and confidentiality of your genetic data.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health records and telemedicine.
Federal Decree-Law No. 4 of 2016 on Medical Liability – protecting patient consent and safety.

Your genetic results are encrypted and accessible only to authorized healthcare professionals directly involved in your care.

Clinical & Logistical Metadata

Test Name	EGR2 Gene CMT1D Genetic Test
Price (AED)	2,800
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood or dried blood spot (FTA card)
Methodology Used	Next-Generation Sequencing (NGS) with copy number analysis
ICD-10-CM Code	G60.0
LOINC Code	51966-6
DHA Facility License & Lab Address	License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE