Test Price
2,800 AED✅ Home Collection Available
COL6A3 Gene Sequencing Test for Bethlem Myopathy Type 1 – 2800 AED
Executive Summary & Core Metrics
The COL6A3 gene next‑generation sequencing test delivers 99.9% diagnostic sensitivity for pathogenic variants associated with Bethlem myopathy type 1, a hereditary collagen VI‑related neuromuscular disorder. This analysis empowers neurologists, clinical geneticists, and paediatric neurologists to confirm diagnosis, guide management, and screen at‑risk family members with the highest available resolution.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary post-test telephonic result interpretation by a DHA-licensed Consultant Medical Genetics.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The full‑gene COL6A3 sequencing assay employs Illumina NovaSeq X Plus technology with integrated copy number variant detection. This approach captures single nucleotide variants, small insertions and deletions, and structural rearrangements across all coding exons and flanking intronic regions, providing a comprehensive molecular analysis for Bethlem myopathy type 1.
| Feature | Our Test (COL6A3 NGS) | Closest Alternative |
|---|---|---|
| Method | Full‑gene NGS (Illumina NovaSeq X Plus) with CNV detection | Targeted mutation panel (limited exons) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Diagnostic Sensitivity | 99.9% for single nucleotide variants & structural rearrangements | ~85% (misses deep intronic & novel variants) |
| Suitable for | Pre‑natal, paediatric, adult, and carrier screening | Symptomatic only |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics (DHA Registration ID: 9294403), I emphasise that genetic testing must always be paired with a complete neuromuscular evaluation and three‑generation family history. A positive COL6A3 result confirms the molecular diagnosis but is not a substitute for clinical judgement; every finding requires careful correlation with the patient’s symptoms, disease progression, and physical examination findings.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics
Important Medication & Safety Notice
⚠ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Altering treatment based solely on a genetic test result can lead to disease exacerbation or life‑threatening complications. All therapeutic decisions must be made by your supervising physician in conjunction with the genetic report and clinical presentation.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Blood transfusion within the last 4 weeks, active immunomodulatory therapy (e.g., high‑dose steroids, biologics) that may compromise DNA integrity, or inability to provide informed consent. For minors, written legal‑guardian consent is required per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags
- Sudden worsening of muscle weakness, difficulty breathing, swallowing issues, or palpitations – seek emergency care immediately. These symptoms may indicate disease progression and require urgent medical evaluation independent of the blood draw procedure.
Patient FAQ & Clinical Guidance
1. How long does the COL6A3 genetic test take and what does the 2800 AED cover?
The full‑gene NGS analysis of COL6A3 for Bethlem myopathy type 1 is completed in 3 to 4 weeks, and the 2800 AED fee includes expert venipuncture, cold‑chain transport, sequencing, bioinformatics interpretation, and a post‑test teleconsultation with a DHA‑licensed Consultant Medical Genetics.
2. Can I use a finger‑prick sample or an FTA card instead of a full blood draw?
Yes, we accept one drop of blood on an FTA card, extracted DNA, or a standard whole blood sample – all are validated for the NGS workflow and are collected by our mobile phlebotomy team under ISO‑certified conditions. All collection methods are processed with identical analytical rigour.
3. Is this test suitable for children and does the result affect treatment?
The test is approved for all ages, including newborns, when accompanied by a paediatric neurologist’s referral. The result provides a precise molecular diagnosis that informs rehabilitative strategies, orthopaedic monitoring, and family planning. Any treatment changes must be made exclusively by your supervising physician based on the complete clinical picture.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This service adheres 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 processing takes place in a facility holding ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) with DHA Facility License No. 1143. Genetic counselling is mandatory before sample collection.
For appointments or insurance queries, contact +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | COL6A3 Gene Sequencing for Bethlem Myopathy Type 1 |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, serum, plasma, or FTA card specimen |
| Methodology Used | Full‑gene next‑generation sequencing (Illumina NovaSeq X Plus) with CNV detection |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 21665-9 |
| 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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