Test Price
2,800 AED✅ Home Collection Available
COL6A2 Myosclerosis, Autosomal Recessive Genetic Test in UAE | 2800 AED | DHA-Approved Clinical Genomics
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing.
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 in result interpretation by DHA-licensed genetic counsellors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted Next-Generation Sequencing (NGS) test analyzes the entire coding region of the COL6A2 gene to detect pathogenic variants causing autosomal recessive myosclerosis, a rare congenital myopathy characterized by muscle stiffness and contractures. Results deliver clinically actionable insights within 3–4 weeks, empowering neurologists and genetic counsellors to confirm diagnosis, guide family planning, and individualize management with confidence.
| Feature | Our Test (COL6A2 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Analytical Precision | High-depth NGS (>100x coverage) with validated bioinformatics pipeline, detecting SNVs, indels, and copy number variations | Sanger sequencing of select exons; may miss deep intronic variants and large deletions |
| Methodology | Illumina® NovaSeq™ platform aligned to GRCh38, combined with advanced variant calling algorithms | Capillary electrophoresis; limited multiplexing capacity |
| Turnaround Time | 3–4 Weeks (expedited processing available) | 4–6 Weeks for full gene coverage |
| Clinical Utility | Confirms diagnosis, differentiates from Ullrich/Bethlem myopathies, informs recessive inheritance risk | Limited variant spectrum; may require reflex to broader panels |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I recognize that genetic testing for rare muscle disorders can feel overwhelming. A positive COL6A2 result must be interpreted alongside your clinical picture and family history; a negative result does not exclude other myopathic conditions. Please discuss all findings with your treating physician before modifying any treatment plan.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is a diagnostic aid and not a substitute for clinical evaluation.
Exclusion Criteria & Emergency Red Flags
- Acute severe muscle trauma or recent intramuscular injection – delay collection 2 weeks.
- Active systemic infection with fever >38°C – reschedule to avoid confounding results.
- History of hematopoietic stem cell transplant within last 6 months – may compromise DNA integrity.
- If experiencing sudden respiratory distress, chest pain, or rapid progression of muscle weakness, seek emergency care immediately – do not wait for test results.
Patient FAQ & Clinical Guidance
1. How is the COL6A2 genetic test performed, and what sample types are accepted?
Snippet Answer: Our laboratory accepts Whole Blood (in EDTA), Extracted DNA, or a single drop of blood dried on an FTA Card. A VIP phlebotomist collects the specimen at your home using cold-chain transport, and the DNA undergoes Next-Generation Sequencing to cover all COL6A2 exons. Results are interpreted by a board-certified molecular pathologist.
2. What do I need to prepare before giving a sample for the COL6A2 myosclerosis test?
Snippet Answer: A genetic counselling session is mandatory to draw a detailed family pedigree chart documenting relatives affected with autosomal recessive myosclerosis. No fasting or medication changes are required, but please provide your complete clinical history.
3. Does the COL6A2 gene test cover all disease-causing mutations?
Snippet Answer: The full coding region sequencing covers more than 95% of known pathogenic mutations causing autosomal recessive myosclerosis, including single nucleotide variants and small insertions/deletions. However, deep intronic or regulatory region variants may require additional testing. A genetics specialist will correlate findings with your clinical presentation.
UAE Regulatory & Data Privacy Adherence
This service complies 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. All clinical testing safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory operates under the direct oversight of the Dubai Health Authority (DHA) and adheres to international standards for genomic data security.
Clinical & Logistical Metadata
| Test Name | COL6A2 Myosclerosis, Autosomal Recessive Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited processing available) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq™, targeted gene panel |
| ICD-10-CM Code | G71.2, Z15.81, Z13.71 |
| LOINC Code | 69457-1 |
| DHA Facility License & Laboratory Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA License: 1143 | Lab: DNA Labs UAE |
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