Test Price
2,800 AED✅ Home Collection Available
COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
• Diagnostic Sensitivity & Specificity: 99.9% via ISO‑accredited Next Generation Sequencing.
• VIP Home Collection: Complimentary mobile phlebotomy with temperature‑controlled cold‑chain logistics, available daily 8 AM – 11 PM.
• Post‑Test Genetic Counselling: Telephonic consultation with a licensed medical geneticist to interpret results.
• Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test uses Next Generation Sequencing (NGS) to analyze the entire coding region of the COL12A1 gene, identifying pathogenic variants responsible for Bethlem myopathy type 2 – a congenital muscular dystrophy characterized by muscle weakness and joint contractures.
| Feature | Our Test (NGS‑Based COL12A1) | Closest Alternative (Single‑Gene Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity | ~99.0% sensitivity; limited to point mutations |
| Methodology | Full gene coverage via Next Generation Sequencing | Sequential reading of individual exons |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (AED) | 2,800 | 3,500+ |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403): “A positive COL12A1 variant confirms the genetic diagnosis of Bethlem myopathy type 2, yet a negative result does not rule out other collagen VI-related disorders or de novo mutations. Please interpret this test in conjunction with electromyography, muscle MRI, and clinical evaluation by a neuromuscular specialist.”
⚠️ Important Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results must always be correlated with clinical findings and reviewed by a qualified healthcare professional.
Exclusion Criteria & Emergency Red Flags
- Minors under 18 years: Valid consent from a legal guardian is mandatory per Federal Decree‑Law No. 4 of 2016 on Medical Liability; unaccompanied minors will not be sampled.
- Patients unable to provide a reliable family pedigree or clinical history should postpone testing until genetic counselling is completed.
- RED FLAGS – seek urgent medical attention if you experience sudden worsening of muscle weakness, difficulty breathing, chest pain, or swallowing difficulties before or after sampling.
Patient FAQ & Clinical Guidance
1. What does the COL12A1 gene test detect and why is it ordered?
The COL12A1 NGS identifies mutations in the COL12A1 gene that cause Bethlem myopathy type 2, a hereditary muscle disorder characterized by early‑onset contractures and slowly progressive weakness.
2. How is the sample collected and is fasting required?
A certified phlebotomist draws a small blood sample during a VIP home visit; no fasting is needed, and collection can also be performed using a buccal swab or FTA card.
3. What is the turnaround time and how accurate are the results?
Results are delivered within 3 to 4 weeks with 99.9% analytical sensitivity and specificity, and every report is reviewed by our ISO‑accredited molecular genetics team.
UAE Regulatory & Data Privacy Adherence
Your genetic information is handled in full compliance 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 consent follows the strictures of Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | COL12A1 Gene Sequencing for Bethlem Myopathy Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Buccal Swab, or FTA Card – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) – Full gene coverage including intron‑exon boundaries |
| ICD-10-CM Code | G71.0 – Muscular dystrophy (Bethlem myopathy type 2) |
| LOINC Code | 92807-5 – COL12A1 gene mutation analysis |
| DHA Facility License & Address | DHA License No: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians