Test Price
2,800 AED✅ Home Collection Available
COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 Genetic Test in UAE – 2,800 AED
2,800 AED
TAT: 3 to 4 Weeks
Executive Summary & Core Metrics
This advanced genetic analysis using Next-Generation Sequencing (NGS) technology provides a definitive molecular diagnosis for Classical Ehlers-Danlos Syndrome associated with the COL5A1 gene, delivering 99.9% diagnostic sensitivity through ISO-accredited processing within the UAE. This test empowers clinicians with precise genomic data to confirm cEDS Type 1/2 and guide multidisciplinary management strategies.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COL5A1 gene test is a definitive molecular diagnostic tool for Classical Ehlers-Danlos Syndrome (cEDS), utilizing Next-Generation Sequencing to detect pathogenic variants with unparalleled depth. This precise genetic examination aims to confirm the clinical diagnosis of Classical Ehlers-Danlos Syndrome, thereby enabling targeted management and health surveillance plans to be established.
| Feature | Our Test (Premium NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with full gene coverage & CNV analysis | Sanger Sequencing of select exons |
| Diagnostic Sensitivity | >99.9% for coding region variants | ~90% (misses deep intronic & large del/dup) |
| Turnaround Time | 3-4 Weeks | 4-6 Weeks |
Physician Insight & Safety Protocols
"This NGS-based test provides a molecular cornerstone for confirming Classical EDS, yet clinical correlation with skin fragility, joint hypermobility, and atrophic scarring remains paramount. I urge patients to view this not as an isolated data point, but as a catalyst for a comprehensive, multidisciplinary management plan coordinated with your specialist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Safety Advisory & Patient Guidance
Critical Clinical Considerations
Do not discontinue or adjust any prescribed medication, especially for cardiovascular or pain management, without explicit consultation with your attending physician. A negative genetic result does not exclude a clinical diagnosis of Ehlers-Danlos Syndrome; clinical correlation remains essential.
Exclusion Criteria for Home Collection
- Severe Vasovagal Syncope: Patients with a documented history of severe fainting episodes during blood draws require a clinical site collection under medical supervision.
- Active Chemotherapy: Individuals currently undergoing active chemotherapy must have sample collection arranged at their treating facility.
- High-Dose Anticoagulation: Patients on high-dose anticoagulant therapy (INR > 3.5) require a clinical site draw post-physician clearance.
- Emergency Red Flags: Seek immediate emergency care for sudden chest pain, acute vision changes, or severe unexplained bruising or bleeding, which may indicate vascular complications requiring urgent assessment.
Patient FAQ & Clinical Guidance
1. What exactly does the COL5A1 gene test diagnose?
This test identifies pathogenic DNA mutations in the COL5A1 gene to confirm a molecular diagnosis of Classical Ehlers-Danlos Syndrome (Type 1/2), guiding targeted management and surveillance strategies tailored to the patient's specific variant.
2. Is a session with a genetic counselor mandatory before this test?
A pre-test genetic counselling session is a mandatory prerequisite to draw a detailed three-generation family pedigree and ensure fully informed consent. This session ensures that patients understand the implications of all possible results, including incidental findings.
3. Can a dried blood spot on an FTA card be used for this NGS test?
Yes, a single drop of blood collected on a specialized FTA card is a validated, stable alternative to whole blood and extracted DNA. This method offers convenience for remote sample collection while maintaining high-quality nucleic acid preservation for downstream sequencing.
4. What is the recommended patient preparation before providing a blood sample?
No special preparation such as fasting is required for this genetic test. However, patients must complete a comprehensive clinical history form and participate in a mandatory genetic counselling session for familial pedigree charting prior to sample collection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All patient genomic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring robust privacy safeguards and data subject rights.
- Health Information Governance: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs the secure handling, transmission, and storage of electronic health records and genetic data.
- Clinical Safety & Consent: Patient safety protocols and informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing that all clinical testing is conducted under the highest standards of medical accountability.
- DHA Licensing: Laboratory operations are conducted under Dubai Health Authority Facility License Number 1143, ensuring compliance with all local healthcare regulations and quality benchmarks.
Clinical & Logistical Metadata
| Test Name | COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage & CNV analysis |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 90207-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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