Test Price
2,800 AED✅ Home Collection Available
COL6A6 Gene Myopathy (COL6A6-Related) Genetic Test in UAE | 2,800 AED | NGS Precision Diagnostic
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Interpretation by DHA-Licensed Genetic Counsellors.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The COL6A6-related myopathy NGS test screens the entire coding region of the COL6A6 gene to detect pathogenic variants associated with congenital myopathies and muscular dystrophies. Using next-generation sequencing on the Illumina® platform, this test provides a definitive molecular diagnosis, guiding personalized management and genetic counselling. Full coding exons, splice sites, and copy number variations are analyzed for comprehensive coverage.
| Feature | Our COL6A6 NGS Test | Closest Alternative (Sanger of Selected Exons) |
|---|---|---|
| Methodology | NGS (Illumina® platform), full gene sequencing | Sanger sequencing of a limited exon panel |
| Coverage | All coding exons, splice sites, CNV analysis | Pre-selected exons only; may miss deep intronic or CNV variants |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable, often without local DHA-recognised certification |
| Home Collection | ✅ 8 AM–11 PM, cold-chain, VIP phlebotomy | ❌ Typically not offered |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis in congenital myopathies transforms clinical management. The COL6A6 NGS test pinpoints the exact genetic variant, enabling tailored surveillance, therapeutic planning, and accurate recurrence risk counselling. Patients should remember that genetic results are most meaningful when discussed with a qualified genetics specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Important Clinical Advisory
Genetic test results should never replace ongoing clinical monitoring. Do not discontinue prescribed therapies or alter treatment regimens without explicit direction from your treating physician. Always maintain scheduled follow-up appointments with your primary care team.
Safety Exclusion Criteria & Emergency Red Flags
- Inability to provide a blood sample (severe coagulopathy or parental refusal).
- Lack of pre-test genetic counselling session (mandatory for a complete pedigree chart).
- Patient or legal guardian refusal to sign informed consent.
- ER Red Flags – Seek Immediate Medical Attention: Sudden respiratory muscle weakness, difficulty swallowing, severe muscle pain with dark urine, or loss of independent ambulation.
Patient FAQ & Clinical Guidance
1. What does the COL6A6 genetic test detect?
Direct Answer Snippet: It detects mutations in the COL6A6 gene linked to congenital myopathies, muscular dystrophies, and associated symptoms.
This NGS assay analyzes all coding regions and splice junctions of COL6A6, identifying single nucleotide variants, small insertions/deletions, and copy number variations that are reported in ClinVar and the Human Gene Mutation Database as pathogenic or likely pathogenic. The test guides personalized management and family planning decisions.
2. How is the home blood collection performed?
Direct Answer Snippet: A trained phlebotomist visits your home in a temperature-controlled cold-chain vehicle to collect a sample, ensuring perfect stability.
We provide VIP mobile phlebotomy between 8 AM and 11 PM. The sample is immediately placed in an ISO-certified cooling container and transported to our DHA-licensed laboratory. You only need to provide a comfortable seat; no fasting is required unless another concurrent test demands it.
3. How should I prepare for the test?
Direct Answer Snippet: Complete a genetic counselling session beforehand to draw a detailed family pedigree and discuss implications.
Preparation requires a clinical history review and a mandatory pre-genetic counselling appointment (offered on-site or via teleconsultation). No special diet or medication adjustments are needed, but please provide a list of current medications and any previous genetic reports. For minors, both parents' consent is mandatory under UAE regulations.
4. What is the turnaround time and when will I receive results?
Direct Answer Snippet: Results are available within 3–4 weeks from sample collection.
Our NGS workflow includes sequencing, bioinformatics analysis, variant interpretation by a Consultant Medical Genetics, and a detailed clinical report. You will receive your report via secure email and a follow-up teleconsultation to discuss the findings.
5. Is genetic counselling included with this test?
Direct Answer Snippet: Yes, pre-test and post-test genetic counselling by a DHA-licensed specialist is included in the service.
Our team provides complimentary telephonic post-test interpretation and a mandatory pre-test counselling session. This ensures you understand the implications of results, including recurrence risks and available support networks.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is encrypted, stored in UAE-based servers, and processed with explicit patient consent. Data sharing restrictions apply strictly as per law.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Digital health records, including genetic test results, are managed under stringent ICT security protocols to prevent unauthorized access.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient safety, informed consent, and clinical accountability are governed by this law, ensuring all testing procedures meet the highest standards of care.
- DHA Facility License Number: 1143 | Laboratory: DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. ISO 9001:2015 Certification: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | COL6A6 Gene Myopathy (COL6A6-Related) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform, full coding region, splice sites, and CNV analysis |
| ICD-10-CM Code | G71.0 (Muscular dystrophy), G71.2 (Congenital myopathy) |
| LOINC Code | 81214-2 (COL6A6 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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