Test Price
2,800 AED✅ Home Collection Available
COL5A1 Genetic NGS Screening for Vascular Ehlers‑Danlos Syndrome (vEDS)
Executive Summary & Core Metrics
- ✔ 99.9% Diagnostic Sensitivity – ISO‑accredited NGS laboratory with dual‑read variant verification and full gene coverage including deep intronic regions.
- ✔ VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available daily from 8 AM to 11 PM; hospital‑grade phlebotomy with sterile single‑use equipment.
- ✔ Post‑Test Clinical Guidance – Telephonic interpretation by a DHA‑licensed Consultant Medical Geneticist included with every report.
- ✔ Direct Billing Verification – WhatsApp +971 54 548 8731 for instant insurance pre‑approval and cost estimates.
- ✔ Regulatory Compliance – Full adherence to DHA standards, Federal Decree‑Law No. 45 of 2021 (PDPL), and Federal Law No. 2 of 2019 for health data protection.
Test Overview & Methodology
COL5A1 gene sequencing detects pathogenic variants causing Vascular Ehlers‑Danlos Syndrome (vEDS) – a life‑threatening connective tissue disorder marked by arterial rupture, uterine fragility, and spontaneous organ perforation. This high‑depth next‑generation sequencing (NGS) test, performed on peripheral whole blood, extracted DNA, or FTA cards, delivers clinically actionable results under strict DHA and ISO compliance frameworks.
The analytical pipeline covers all coding exons, flanking splice sites, and selected deep intronic regions of the COL5A1 gene, achieving a diagnostic yield unattainable by traditional Sanger sequencing alone. Copy number variant (CNV) detection is integrated into the bioinformatics workflow to identify large deletions or duplications that conventional panels routinely miss.
| Feature | DNA Labs UAE – NGS Platform | Traditional Sanger Panel |
|---|---|---|
| Method | High‑depth Next‑Gen Sequencing (full COL5A1 gene, coding + deep intronic + CNV analysis) | Capillary sequencing of selected exons only |
| Sensitivity | 99.9% – covers deep intronic variants, splice site mutations, and large copy number alterations | ~85% – misses large deletions, duplications, and deep intronic pathogenic variants |
| Turnaround Time | 3–4 weeks (integrated wet‑lab and bioinformatics pipeline) | 6–8 weeks (sequential exon testing, no CNV pipeline) |
| DHA & Regulatory Compliance | Full – DHA Facility License #1143, ISO 9001:2015, PDPL compliant | Often partial – reference laboratory may lack direct UAE accreditation |
Physician Insight & Safety Protocols
“A pathogenic COL5A1 variant must always be correlated with clinical findings, family history, and vascular imaging studies. This genetic result does not replace urgent cardiology or vascular surgery evaluation. All medication adjustments, including beta‑blockers or antihypertensives, should be discussed with the treating physician before any change is made. Multidisciplinary care involving a clinical geneticist, vascular surgeon, and high‑risk obstetrician (where applicable) is strongly recommended for confirmed vEDS patients.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory Notice
⚠️ Medication Advisory
Do not discontinue, alter, or adjust any prescribed medication without explicit consultation with your treating physician. Abrupt cessation of beta‑blockers, antihypertensives, or anticoagulants may provoke life‑threatening vascular events, including aortic dissection or rupture in patients with underlying connective tissue disorders.
Exclusion Criteria & Emergency Red Flags
- Exclusion criteria for home phlebotomy: active fever ≥38.5°C, inability to provide informed consent, or known difficult venous access without prior arrangement for an alternative collection site.
- Emergency red flags – seek immediate medical attention: sudden severe chest or back pain (suspected aortic dissection), acute abdominal pain with distension (possible bowel or organ perforation), unexplained drooping eyelid or pupillary change (carotid‑cavernous fistula), or new‑onset seizure (intracranial aneurysm).
Patient FAQ & Clinical Guidance
1. What does a pathogenic COL5A1 variant mean for my health?
A pathogenic mutation in the COL5A1 gene confirms a diagnosis of Vascular Ehlers‑Danlos Syndrome (vEDS). This result mandates immediate cardiac and vascular surveillance to prevent life‑threatening arterial ruptures. Multidisciplinary care is essential, typically involving a clinical geneticist, vascular surgeon, and, where applicable, a high‑risk obstetrician. Regular imaging of the aorta and branch vessels is strongly recommended to monitor for dissection or aneurysm formation.
2. How soon will I receive my NGS results?
Results are typically delivered within 3 to 4 weeks through our secure patient portal, accompanied by a comprehensive clinical interpretive report. The timeline accounts for DNA extraction, library preparation, high‑depth sequencing, bioinformatics analysis, and a mandatory two‑person variant review. Urgent preliminary findings, such as a known familial mutation, can be expedited upon request from the referring physician.
3. Is home sample collection safe and compliant with UAE regulations?
Yes. Our DHA‑licensed phlebotomists perform home collection in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health data protection. All collections use sterile single‑use equipment, and specimens are transported under temperature‑controlled cold‑chain conditions to preserve DNA integrity. A digital chain‑of‑custody receipt is provided after each visit.
4. Will my insurance cover the cost of this genetic test?
Many UAE insurance plans provide coverage for diagnostic genetic testing when ordered by a qualified physician. Direct billing verification is available via WhatsApp at +971 54 548 8731. Our team will confirm your coverage limits and any prior authorization requirements before sample collection, so you know your financial responsibility upfront.
5. How is my genetic data protected under UAE law?
All genetic data is encrypted and stored in compliance with Federal Decree‑Law No. 45 of 2021 (PDPL) and the health data provisions of Federal Law No. 2 of 2019. Access is restricted to authorized clinical personnel directly involved in your care. Your data is never shared with third parties without your explicit written consent, except as required by UAE law for public health reporting.
UAE Regulatory & Data Privacy Adherence
Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): DNA Labs UAE implements comprehensive technical and organizational measures to safeguard your personal and genetic data, including encryption, access controls, and audit logging. All data processing activities are conducted with lawful basis and documented consent.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure complies with all requirements for the secure handling, storage, and transmission of electronic health records and genetic test results. Interoperability standards are maintained for seamless integration with DHA‑licensed healthcare providers.
Federal Decree‑Law No. 4 of 2016 on Medical Liability: All clinical testing, patient consent procedures, and safety protocols adhere to the medical liability framework, ensuring that every step of the diagnostic pathway meets the highest standards of patient safety and professional accountability.
For any data protection inquiries, contact our Data Privacy Officer at +971 54 548 8731 or visit DNA Labs UAE in person.
Clinical & Logistical Metadata
| Test Name | COL5A1 Genetic NGS Screening for Vascular Ehlers‑Danlos Syndrome (vEDS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (standard) with expedited options for known familial mutations |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube), extracted genomic DNA, or FTA card |
| Methodology Used | High‑depth Next‑Generation Sequencing (NGS) with CNV detection and dual‑read variant verification |
| ICD-10-CM Code | Q79.6 (Ehlers‑Danlos syndromes) |
| LOINC Code | 94301-2 (COL5A1 gene full sequencing) |
| DHA Facility License & Laboratory Address | License #1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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