Test Price
2,800 AED✅ Home Collection Available
COL6A2 Gene NGS Test for Bethlem Myopathy – 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing with Sanger confirmation and CNV analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM across all UAE emirates.
- Clinical Guidance: Post-test telephonic interpretation by DHA-licensed genetics specialists.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COL6A2 gene NGS test provides comprehensive detection of pathogenic variants in the COL6A2 gene, the cause of Bethlem myopathy – a slowly progressive collagen VI-related muscular dystrophy. The assay sequences the entire coding region and assesses deletions/duplications, delivering a definitive molecular diagnosis to guide prognosis and family planning.
| Feature | Our COL6A2 NGS Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% analytical sensitivity (full gene + CNV analysis) | Limited to point mutations; misses large deletions/duplications |
| Methodology | NGS with Sanger confirmation; deletion/duplication analysis | Single‑gene Sanger sequencing of selected exons |
| Result Turnaround | 3 to 4 weeks | 6 to 8 weeks |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403):
“As a DHA-licensed medical geneticist, I underscore that COL6A2 genetic test results must be interpreted within the full clinical context. A negative result does not completely exclude other collagen VI-related disorders or phenocopies. Always discuss findings with your treating physician before making any clinical decisions.”
Advisory & Precautions
Patient Safety & Contraindications
- Blood Collection Exclusion: Acute febrile illness, severe coagulopathy (INR >1.5), or active skin infection at venipuncture site.
- Post‑Collection ER Red Flags: Excessive bleeding, expanding hematoma, or syncope unresponsive to first aid – seek emergency care immediately.
- All samples are drawn by DHA-licensed phlebotomists following universal precautions.
Patient FAQ & Clinical Guidance
1. What is the COL6A2 gene test and why is it ordered?
The COL6A2 NGS test identifies pathogenic variants causing Bethlem myopathy, a collagen VI-related muscular dystrophy. It provides accurate diagnosis and informs family planning and prognosis.
2. How long does it take to receive results in the UAE?
Results are typically available within 3 to 4 weeks from sample receipt at our ISO‑certified laboratory in Dubai Healthcare City.
3. Is home blood collection available and covered by insurance?
Yes, our VIP mobile phlebotomy service provides hospital-grade home collection across all UAE emirates from 8 AM to 11 PM. Insurance billing can be verified directly via WhatsApp.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure handling of genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health records and consent.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – covering informed consent and clinical safety.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | COL6A2 Gene NGS Test (Bethlem Myopathy) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation and CNV analysis |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 48813-3 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians