Test Price
2,800 AED✅ Home Collection Available
COL5A2 Gene Classical Ehlers-Danlos Syndrome (cEDS) NGS Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS processing with full coding exon coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for whole blood and DNA specimens.
- Clinical Guidance: Complimentary post-test telephonic consultation with a DHA-licensed genetic counsellor to review your results in clinical context.
- Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731 with major UAE insurers.
- Turnaround Time: 21–28 working days from sample receipt to final clinical report.
- Price: 2,800 AED inclusive of NGS analysis, bioinformatics interpretation, and genetic counselling.
Test Overview & Methodology
The COL5A2 gene NGS test analyzes the complete coding sequence and splice-site junctions of the COL5A2 gene using next-generation sequencing on the Illumina platform. This assay confirms or excludes classical Ehlers-Danlos syndrome (types I and II) with high analytical precision, detecting single nucleotide variants, small insertions, and deletions across all coding exons. Results must be interpreted alongside clinical phenotype and family history by a qualified medical geneticist.
| Feature | COL5A2 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity and specificity for all coding exons | ~99% per exon, may miss deep intronic variants |
| Method | Next-Generation Sequencing (Illumina) with full exon coverage and bioinformatics pipeline | Sanger sequencing, typically single-exon analysis |
| Turnaround Time | 21–28 working days | 40–60 working days if whole gene is sequenced |
| Sample Types | Whole blood, extracted DNA, dried blood spot on FTA card | Whole blood or purified DNA only |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I see many individuals and families navigating the uncertainty of a suspected heritable connective tissue disorder. This NGS test provides definitive molecular evidence for classical Ehlers-Danlos syndrome, but it must never be interpreted in isolation. A thorough clinical evaluation, detailed three-generation pedigree, and correlation with physical findings are essential before any management decisions are made. I personally review every result and will discuss the implications with you directly."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Treatment Safety
Do not discontinue, adjust, or start any prescribed medication, supplement, or therapy without explicit guidance from your treating physician. Genetic test results may inform future care but should never trigger immediate self-directed changes to your current regimen. Always consult your doctor before making any modifications.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Inability to provide informed consent independently or through a legally authorized representative.
- Severe thrombocytopenia (platelet count <30,000/µL) that contraindicates standard venipuncture.
- Acute psychiatric crisis requiring immediate medical stabilization and intervention.
Emergency Red Flags Requiring Immediate Care
- Sudden onset of severe chest pain, abdominal pain, or back pain suggestive of arterial dissection or rupture.
- Acute vision changes, including sudden loss of vision or double vision.
- Unexplained syncope, hemodynamic instability, or signs of internal bleeding.
- If any of these occur, seek emergency medical care immediately and inform the emergency team of the suspected connective tissue disorder.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the COL5A2 NGS test for classical Ehlers-Danlos syndrome?
The COL5A2 NGS test delivers 99.9% diagnostic sensitivity and specificity for classical Ehlers-Danlos syndrome by analyzing all coding exons and splice-site regions. Our ISO 9001:2015 accredited laboratory uses validated Illumina sequencing chemistry and a robust bioinformatics pipeline to detect single nucleotide variants, small insertions, and deletions with high confidence. Negative results do not fully exclude cEDS if clinical suspicion remains high, as deep intronic or regulatory region variants may not be captured by this assay.
2. What sample types are accepted and how should I prepare?
We accept whole blood collected in an EDTA tube, extracted DNA of sufficient quality and quantity, or a dried blood spot on an FTA card collected via a simple finger-prick. No special preparation or fasting is required. Our VIP mobile phlebotomy service can collect your sample at home between 8 AM and 11 PM daily, ensuring temperature-controlled transport to the laboratory. You will receive a secure courier tracking link once your sample is in transit.
3. How long does it take to get results and how will I receive them?
Results are reported within 21 to 28 working days from the date the sample is received and verified at our laboratory. Your report will be delivered electronically via a secure, encrypted patient portal and can also be shared directly with your referring physician. A complimentary telephonic consultation with a DHA-licensed genetic counsellor is scheduled within 5 working days of report issuance to explain the findings and their clinical implications.
4. Is this genetic test covered by health insurance in the UAE?
Insurance coverage for genetic testing varies by provider and policy. We verify your plan’s benefits and facilitate direct billing with most major UAE insurers. Please contact our billing team via WhatsApp at +971 54 548 8731 before booking your appointment to confirm your coverage level and any prior authorization requirements.
UAE Regulatory & Data Privacy Adherence
All genetic testing services provided by DNA Labs UAE strictly comply 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 safety, patient consent, and laboratory practice adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic sequence data is processed and stored exclusively within UAE borders under ISO 9001:2015 certified standard operating procedures. No raw genetic data is shared with third parties without explicit written patient consent.
DHA Facility License Number: 1143 | Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | COL5A2 Gene Classical Ehlers-Danlos Syndrome (cEDS) NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 working days |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (Illumina) with full exon coverage, splice-site analysis, and bioinformatics variant interpretation |
| ICD-10-CM Code | Q79.6 |
| LOINC Code | 94219-3 |
| 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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