Test Price
2,800 AED✅ Home Collection Available
COL2A1 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post‑test clinical correlation session with a DHA‑licensed genetic counsellor.
- Insurance: Direct billing verification – send your policy via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing test analyzes the entire COL2A1 gene to detect pathogenic variants causative of otospondylomegaepiphyseal dysplasia (OSMED) and related type II collagenopathies, delivering a conclusive molecular diagnosis in 3‑4 weeks.
| Feature | Our Test (COL2A1 NGS) | Traditional Skeletal Dysplasia Panel |
|---|---|---|
| Precision | Single‑gene high‑depth sequencing; 100% exonic coverage, sensitive to splice‑site variants | May miss deep intronic mutations; variable coverage |
| Method | Next‑Generation Sequencing (Illumina® platform) | Sanger sequencing / limited NGS panels |
| Turnaround | 3–4 weeks | 6–8 weeks |
| Cost | 2,800 AED | 4,500+ AED |
Physician Insight & Safety Protocols
“I encourage every family to view this test as a starting point — a positive result must be interpreted in the full clinical and radiological context to differentiate OSMED from other skeletal dysplasias. Genetic counselling for first‑degree relatives is essential. Early diagnosis enables timely fitting of hearing aids and orthopaedic follow‑up, dramatically improving quality of life.” — Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403)
Medication & Pre‑Test Warning
⚠️ Do not discontinue any prescribed medication or supplement without explicit instruction from your treating physician. This test requires only a standard blood draw; no special dietary preparation is needed. Inform the phlebotomist if you are on anticoagulants.
Safety Exclusion Criteria & Red Flags
- Exclusion criteria: Bone marrow transplant within the last 4 weeks, non‑verifiable identity, or sample contamination.
- Emergency red flags (seek immediate care, not just genetic testing): Sudden sensorineural hearing loss, acute joint dislocation, or progressive neurological deficits suggesting spinal cord compression.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of this COL2A1 NGS test?
Direct answer: This test definitively diagnoses otospondylomegaepiphyseal dysplasia and Stickler syndrome by detecting COL2A1 mutations, enabling targeted management and genetic counselling.
2. How should I prepare, and what sample is required?
Direct answer: No fasting or medication changes are needed; a certified phlebotomist collects 2–3 ml of whole blood in an EDTA tube or a single blood drop on an FTA card.
3. Will my insurance cover the cost, and how fast are results reported?
Direct answer: Most UAE insurers cover medically indicated genetic tests; we verify your policy via WhatsApp and deliver the report in 3–4 weeks with a tele‑counselling session.
UAE Regulatory & Data Privacy Adherence
Healthcare Law & Data Protection Framework
This service strictly adheres to 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. Laboratory operations hold ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and are licensed by the DHA (Facility License: 1143). All genetic data is stored on encrypted local servers and never shared without informed consent.
Clinical & Logistical Metadata
| Test Name | COL2A1 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (2–3 mL EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina®) |
| ICD-10-CM Code | Q77.8 |
| LOINC Code | 81305-2 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians