Test Price
2,800 AED✅ Home Collection Available
COL2A1 Gene Genetic Test for Multiple Epiphyseal Dysplasia with Myopia and Deafness in UAE | DNA Labs UAE
Executive Summary & Core Metrics
✔ Accuracy Guarantee:
99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS 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 guidance with a DHA-licensed genetic counsellor to interpret your results.
✔ Insurance:
Direct billing verification via WhatsApp at +971 54 548 8731 — we check your coverage before the draw.
Test Overview & Methodology
This next‑generation sequencing (NGS) test examines the entire COL2A1 gene to detect pathogenic variants responsible for multiple epiphyseal dysplasia with myopia and deafness, enabling early intervention. Below, compare our gold‑standard NGS solution with the closest alternative still used in some laboratories.
| Feature | Our Test (NGS – COL2A1 Gene) | Alternative (Sanger Sequencing – Single Variant) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% for all coding variants, including novel mutations | ~80‑90% – only detects known familial variant |
| Methodology | NGS with ClinVar & HGMD bioinformatics | Sanger chain termination (limited to one exon at a time) |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks (for full gene, often longer) |
| ISO / DHA Compliance | Full UAE Genetic Testing Law | May lack updated accreditation |
Physician Insight & Safety Protocols
"A positive COL2A1 result provides clarity for families navigating skeletal dysplasia, but it must be interpreted in conjunction with full clinical and radiological findings. Every result deserves a multidisciplinary discussion to avoid unnecessary interventions. Genetic knowledge is a compass, not a verdict."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
This genetic test does not replace clinical management of myopia or hearing loss. Continue all prescribed treatments and follow-up appointments with your specialist.
Exclusion Criteria & ER Red Flags
- Exclusion: This test is not indicated for asymptomatic minors without a confirmed family history and formal genetic counselling, in compliance with UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields and Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Not a standalone screening for isolated myopia or non‑syndromic hearing loss; must be ordered by a paediatrician or clinical geneticist.
- ER Red Flags: Sudden loss of vision, acute deterioration of hearing, or acute joint dislocation with severe pain require immediate emergency care, not only genetic testing.
Patient FAQ & Clinical Guidance
1. What does the COL2A1 Genetic Test detect, and why is it recommended?
This test sequences the entire COL2A1 gene to identify mutations causing multiple epiphyseal dysplasia with myopia and deafness, providing a definitive molecular diagnosis. It is recommended when a child presents with short stature, early‑onset myopia, and sensorineural hearing loss, or when there is a known family history. The result guides surveillance (ophthalmologic, audiologic, orthopaedic) and genetic counselling.
2. How is the sample collected, and when will I receive the results?
A trained phlebotomist visits your home to collect a small blood sample using ISO‑certified cold‑chain transport, and results are ready in 3 to 4 weeks. No fasting or special preparation is required. We provide real‑time tracking via WhatsApp, and you can schedule collection from 8 AM to 11 PM, any day.
3. Will my UAE health insurance cover the cost of this genetic test?
Coverage varies by policy, but our team provides direct billing verification through WhatsApp at +971 54 548 8731 before your appointment, so there are no surprises. Many UAE insurers now include medically necessary genetic testing under specialist referral. We can also issue a detailed invoice for reimbursement if you prefer to pay first.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security Compliance: Your genetic data is handled in full 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 safety and patient consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | COL2A1 Gene Sequencing (Multiple Epiphyseal Dysplasia with Myopia and Deafness) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (Lavender top EDTA tube) or buccal swab |
| Methodology Used | Next-Generation Sequencing (NGS) of coding exons and flanking intronic regions of COL2A1 |
| ICD-10-CM Code | Q78.8 (Other osteochondrodysplasias) |
| LOINC Code | 83245-8 (COL2A1 gene full sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians