Test Price
2,800 AED✅ Home Collection Available
COL2A1 Gene Spondyloepimetaphyseal Dysplasia Strudwick Type NGS Test in UAE
Executive Summary & Core Metrics
Executive Summary
- ✓ 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- ✓ Clinical Guidance: Telephonic Post‑Test Clinical Guidance for interpretation of results.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive Next Generation Sequencing (NGS) assay screens the entire coding region of the COL2A1 gene, identifying pathogenic variants responsible for Spondyloepimetaphyseal Dysplasia Strudwick type (SMED Strudwick), a rare skeletal disorder characterized by disproportionate short stature, joint deformities, and spinal abnormalities. Clinical interpretation is crucial for pediatric management and family planning.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing of Hotspots) |
|---|---|---|
| Precision | Complete gene coverage with deep read depth; detects SNVs, indels, and copy number variants | Targeted analysis of selected exons; may miss deep intronic mutations |
| Methodology | High‑throughput NGS with proprietary bioinformatics pipeline | Sequential Sanger sequencing – limited resolution for mosaicism |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks (stepwise approach) |
Physician Insight & Safety Protocols
"While genetic confirmation of a COL2A1 variant provides definitive molecular diagnosis, the full clinical picture—including skeletal radiographs, growth parameters, and a three-generation family pedigree—remains essential for accurate classification and management. Results must be interpreted within a multidisciplinary framework involving clinical genetics, orthopedics, and developmental pediatrics."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
⚠️ Important
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not override ongoing treatment regimens.
Exclusion Criteria & Emergency Red Flags
- Unstable clinical condition such as acute respiratory distress or suspected spinal cord compression – seek immediate hospital care.
- Inability to provide informed consent or complete pre‑test genetic counselling.
- Patients under 18 years of age without parental or legal guardian consent, in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
If you experience sudden severe pain, neurological deficits, or difficulty breathing, go to the nearest Emergency Department immediately. Genetic testing is not an emergency investigation.
Patient FAQ & Clinical Guidance
1. What is the COL2A1 gene test and who should consider it?
This NGS test sequences the entire COL2A1 gene to identify pathogenic variants causing Spondyloepimetaphyseal Dysplasia Strudwick type, a rare skeletal dysplasia. It is recommended for children and adults presenting with disproportionate short stature, kyphoscoliosis, and early‑onset osteoarthritic changes, as well as for family members seeking carrier status determination or prenatal confirmation under genetic counselling.
2. How long does it take and what sample is needed?
Turnaround time is 3 to 4 weeks using a blood sample, extracted DNA, or a dried blood spot on FTA card. A VIP mobile phlebotomy home collection service is available daily from 8 AM to 11 PM with temperature-controlled cold-chain transport. No fasting or medication changes are required.
3. Are there any special preparations or risks?
No medication changes are required, but a genetic counselling session and pedigree charting are mandatory before testing. The blood draw carries minimal risk—slight bruising at the venepuncture site. All data handling complies with UAE 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, ensuring complete genomic data privacy. For minors, consent from a legal guardian is legally required under Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and adheres strictly 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. All genomic data is encrypted, access-controlled, and processed solely for clinical diagnostic purposes. Patients retain full rights to access, rectify, and request deletion of their personal data under PDPL provisions. This laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | COL2A1 Gene Spondyloepimetaphyseal Dysplasia Strudwick Type NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube), extracted genomic DNA, or dried blood spot on FTA card |
| Methodology Used | Next Generation Sequencing (NGS) with proprietary bioinformatics pipeline |
| ICD-10-CM Code | Q77.7 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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