Test Price
2,800 AED✅ Home Collection Available
SYNE1 Gene Sequencing – Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4) – Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
This SYNE1 gene sequencing analysis utilises advanced next-generation sequencing (NGS) technology to deliver definitive diagnosis of Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4), a rare inherited neuromuscular disorder characterised by early joint contractures, progressive skeletal muscle weakness, and life-threatening cardiac conduction abnormalities. The test integrates mandatory pre-test genetic counselling with post-result clinical follow-up by a DHA-licensed Consultant Medical Geneticist, ensuring full compliance with UAE healthcare standards.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS & Sanger Confirmation
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM)
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance by DHA-Licensed Consultant Medical Geneticist
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The SYNE1 gene encodes nesprin-1, a nuclear envelope protein essential for maintaining skeletal and cardiac muscle integrity. Pathogenic variants in SYNE1 cause Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4), an autosomal dominant or recessive condition that requires early genetic confirmation to guide cardiac surveillance, physiotherapy, and family cascade screening. Our laboratory employs full-gene sequencing by Illumina NovaSeq 6000 NGS with orthogonal Sanger verification to achieve comprehensive coverage of all coding exons and splice sites.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full SYNE1 gene coverage via NGS + Sanger confirmation | Single-exon sequencing / targeted mutation panel |
| Methodology | Illumina NovaSeq 6000 NGS with orthogonal Sanger verification | Conventional Sanger sequencing (limited to known hotspots) |
| Turnaround Time | 3–4 weeks including pre-test genetic counselling session | 6–8 weeks without integrated counselling pathway |
Physician Insight & Safety Protocols
“A positive SYNE1 result establishes a clear molecular diagnosis of EDMD4 and mandates lifelong cardiology surveillance, regular physiotherapy, and targeted family counselling. However, a negative sequencing result does not entirely exclude the disorder if clinical suspicion remains high, and such cases warrant further neuromuscular workup including muscle biopsy. Genetic testing must always be interpreted within the full clinical context.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Medication Safety Advisory
Do not discontinue prescribed medication without consulting your treating physician. Cardiac medications such as beta-blockers, ACE inhibitors, and antiarrhythmic agents must be continued under specialist supervision even while awaiting genetic results. Abrupt cessation can precipitate serious cardiovascular events.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with uncorrected severe bleeding disorders or those on high-dose anticoagulant therapy without documented medical clearance for venipuncture.
- ER Red Flags – Seek Immediate Emergency Care: New-onset syncope, unexplained palpitations, sudden breathlessness or orthopnoea (potential signs of cardiomyopathy or arrhythmia); rapid progression of limb or respiratory muscle weakness.
Patient FAQ & Clinical Guidance
1. What is the SYNE1 gene test and who should consider it?
A: The SYNE1 gene test identifies pathogenic mutations that cause Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4), a rare inherited disorder affecting skeletal muscle integrity and cardiac conduction. It is indicated for individuals presenting with early joint contractures, progressive muscle wasting, elevated creatine kinase levels, or a family history suggestive of autosomal dominant or recessive EDMD inheritance.
2. How should I prepare for the test and is fasting required?
A: No fasting is required prior to sample collection. You must provide a detailed neurological and cardiac history, and attendance at the mandatory pre-test genetic counselling session is required before venipuncture occurs. Please bring any prior imaging, electromyography reports, or cardiac evaluation records to your appointment.
3. What does the result mean and can it guide treatment?
A: A positive result confirms EDMD4 and triggers immediate cardiology referral for echocardiogram and Holter monitoring, a structured physiotherapy regimen, and cascade genetic testing for at-risk relatives. A negative result does not fully exclude EDMD4 if clinical signs are strong; your geneticist may recommend additional studies such as muscle biopsy or broader neuromuscular gene panel analysis.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled under the strictest UAE legal frameworks. All personal health information is protected in accordance with 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 testing safety, informed consent, and patient rights are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA-licensed facility (License No. 1143) committed to ISO 9001:2015 quality standards and secure genomic data stewardship.
Clinical & Logistical Metadata
| Test Name | SYNE1 Gene Sequencing – Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks including mandatory pre-test genetic counselling |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq 6000) with Sanger Confirmation |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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