Test Price
2,800 AED✅ Home Collection Available
EMD Gene (Emery-Dreifuss Muscular Dystrophy Type 1) NGS Test in UAE | AED 2,800 | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing (NGS).
Premium Logistics: Hospital-grade home blood draw or FTA card collection with temperature-controlled cold-chain transport, available 8 AM–11 PM across UAE.
Clinical Guidance: Post-test telephonic genetic counselling and interpretation support from DHA-licensed specialists.
Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; price AED 2,800 inclusive.
Test Overview & Methodology
The EMD gene NGS test screens for pathogenic variants in the EMD gene causing Emery-Dreifuss muscular dystrophy type 1 (EDMD1), a rare X-linked neuromuscular disorder characterized by early contractures, muscle weakness, and cardiac conduction defects. Comprehensive sequencing of the entire EMD gene including intronic regions ensures high sensitivity for single nucleotide variants, small insertions/deletions, and copy number variations.
| Feature | Our Test (NGS-EMD) | Alternative (Sanger/Gene Panel) |
|---|---|---|
| Precision | 99.9% SNV/Indel detection, CNV analysis included | May miss large deletions or duplications; variable sensitivity |
| Method | Next-Generation Sequencing (Illumina platform) with full gene coverage | Sanger sequencing of coding regions only, or focused NGS panel with limited EMD coverage |
| Turnaround Time | 3–4 weeks (standard); expedited options available | 4–6 weeks or longer if reflex testing required |
| Reporting | Clinically actionable report with ACMG variant classification and genetic counselling note | Often limited to variant detection without clinical correlation guidance |
Physician Insight & Safety Protocols
"As a consultant in medical genetics, I emphasize that this NGS test provides critical information for families at risk of Emery-Dreifuss muscular dystrophy. However, results must be interpreted alongside family history and clinical evaluation. Genetic counseling is essential for understanding implications and guiding informed decisions."
— Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results should not replace current medical management without expert clinical correlation.
Exclusion Criteria & Emergency Red Flags
- Unconfirmed clinical phenotype suggestive of EDMD1.
- Individuals unwilling to undergo mandatory genetic counselling.
- Minors without explicit consent from legal guardians (as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Seek immediate emergency care if experiencing sudden palpitations, syncope, severe muscle weakness affecting breathing, or new cardiac symptoms.
Patient FAQ & Clinical Guidance
1. What is the EMD gene NGS test and what does it detect?
NGS analysis of the entire EMD gene detects mutations causing Emery-Dreifuss muscular dystrophy type 1. This test aids in accurate diagnosis and genetic counseling for at-risk families.
2. Who should consider taking this test?
Individuals with early joint contractures, progressive muscle weakness, cardiac conduction defects, or a family history of EDMD1 should consider genetic testing for diagnosis or carrier status.
3. How do I prepare for the test and what is the cost in UAE?
No special preparation is required. The cost is AED 2,800 inclusive of home blood draw, NGS analysis, and a post-test genetic counseling session. Direct billing verification is available via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for patient data privacy and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical consent and safety protocols align with Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory process is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). All genetic counselling is DHA-regulated under facility license 1143.
Clinical & Logistical Metadata
| Test Name | EMD Gene (Emery-Dreifuss Muscular Dystrophy Type 1) NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina platform) with full gene coverage including intronic regions and CNV analysis |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 55233-1 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DHA License No: 1143 (DNA Labs UAE) |
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