Test Price
2,800 AED✅ Home Collection Available
COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing at DNA Labs UAE. Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM). Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance with a DHA-licensed Consultant Medical Geneticist for result interpretation. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Next‑Generation Sequencing (NGS) – Illumina‑based platform, >99.9% analytical sensitivity
3 to 4 Weeks
Whole Blood, Extracted DNA, or FTA Card
2,800 AED (inclusive of genetic counselling)
Test Overview & Methodology
The COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test identifies pathogenic variants in the COL2A1 gene using next-generation sequencing, enabling precise molecular diagnosis of this rare type II collagenopathy. This test is essential for differentiating spondyloperipheral dysplasia from other skeletal dysplasias and guides multidisciplinary management, surveillance, and family planning.
| Feature | Our Test (COL2A1 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity, full gene coverage | Single‑variant analysis; may miss novel mutations |
| Method | Massively parallel NGS (30x–100x depth) | Capillary sequencing; limited throughput |
| Speed | 3–4 weeks from sample receipt | 6–8 weeks for comprehensive gene scan |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I understand that awaiting a rare skeletal dysplasia result can be anxious. This NGS test offers definitive molecular evidence so we can plan multidisciplinary care. Please remember that results must always be correlated with your physical findings and family history.”
– Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication Continuation
Do not discontinue any prescribed medication without consulting your doctor. This test is for diagnostic purposes and does not replace ongoing treatment decisions. Always follow your physician's guidance regarding medication adjustments.
Safety Exclusion & Red Flags
Exclusion Criteria
- Active bleeding disorder
- Inability to give informed consent (minors require legal guardian)
- Acute infection at venipuncture site
ER Red Flags: If you develop severe pain, swelling, warmth, or discharge at the blood draw site, seek immediate medical attention.
All clinical procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the COL2A1 gene test used for?
This advanced genetic test identifies pathogenic COL2A1 gene variants to diagnose spondyloperipheral dysplasia with 99.9% accuracy. It helps differentiate this condition from other skeletal dysplasias and informs treatment, surveillance, and family planning.
2. How is the sample collected and what preparation is required?
A simple blood draw or FTA card sample is collected by a certified phlebotomist during home collection without special preparation. Our VIP mobile team arrives within the pre-booked slot, and the sample is transported in a temperature-controlled cold-chain kit. A prior genetic counselling session to draw a pedigree chart is mandatory.
3. How long until results are received and who interprets them?
Final results are delivered within 3–4 weeks via a secure portal along with a comprehensive clinical report. A board-certified Consultant Medical Geneticist reviews the raw data, and we offer a complimentary telephonic session with a DHA-licensed specialist to explain findings and next steps.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143. All genetic testing and data handling 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. Patient results are encrypted and accessed only by authorized clinical personnel. For any privacy concerns, contact our Data Protection Officer.
Clinical & Logistical Metadata
| Test Name | COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform |
| ICD-10-CM Code | Q77.8 |
| LOINC Code | 81257-1 |
| 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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All reports reviewed by DHA-Certified physicians