Test Price
2,800 AED✅ Home Collection Available
COL6A1 Gene Bethlem Myopathy Next‑Generation Sequencing (NGS) Test
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
- 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 for result interpretation by Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The COL6A1 Gene NGS test identifies disease‑causing variants in the COL6A1 gene, confirming Bethlem myopathy – a slowly progressive hereditary neuromuscular disorder. This test provides definitive molecular diagnosis, guides clinical management, and enables informed family planning.
| Parameter | Our Test (NGS) | Alternative (Sanger) |
|---|---|---|
| Precision | Comprehensive coding region coverage – detects SNVs, indels, and CNVs | Limited to individual exons |
| Method | Next‑Generation Sequencing (NGS) with bioinformatic verification | Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Genetic testing for Bethlem myopathy provides a definitive molecular diagnosis, but it is the beginning of a journey. Interpreting these results requires a complete clinical picture, family history, and compassionate counselling. Our role is to ensure every patient and family understands the path forward."
Medication & Supplement Advisory
Do not discontinue any prescribed medication without consulting your doctor. Certain drugs and supplements may influence neuromuscular status; full disclosure of all medications, supplements, and clinical history before testing is essential for accurate molecular interpretation.
Safety & Exclusion Criteria
- Exclusion: Patients unable to give informed consent; minors without legal guardian authorisation; active systemic infection compromising sample integrity; non‑germline mosaic conditions requiring skin biopsy.
- Red Flags (Seek Immediate Medical Attention): Sudden severe muscle weakness, respiratory difficulty, or swallowing impairment – these require emergency evaluation.
Patient FAQ & Clinical Guidance
1. What is the purpose of the COL6A1 gene NGS test for Bethlem myopathy?
This test confirms a molecular diagnosis of Bethlem myopathy by sequencing the entire COL6A1 gene to identify disease‑causing mutations, guiding clinical management and family planning.
2. How is the sample collected for this genetic test?
A certified phlebotomist collects a whole blood sample via our VIP Mobile Phlebotomy service. Alternatively, previously extracted DNA or a dried blood spot on an FTA card can be submitted.
3. What do the results mean for my family and treatment plan?
A positive result confirms the genetic cause, enabling targeted surveillance and genetic counselling for at‑risk relatives. A negative result may require further clinical or molecular investigation.
UAE Regulatory & Data Privacy Adherence
Commitment to Compliance
This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing genetic data privacy, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical testing and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | COL6A1 Gene Bethlem Myopathy Next-Generation Sequencing (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatic Verification |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 101385-9 |
| DHA License & Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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