Test Price
2,800 AED✅ Home Collection Available
COL6A3 Gene Sequencing (Ullrich Congenital Muscular Dystrophy Type 1) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
A high-depth next-generation sequencing test analyzing the entire coding region of the COL6A3 gene to confirm or rule out Ullrich congenital muscular dystrophy type 1, a severe collagen VI-related myopathy. This genetic test is performed at DNA Labs UAE, a DHA-licensed facility (License 1143) with ISO 9001:2015 accredited processing.
- 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 (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance with result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This high-depth next-generation sequencing test analyzes the entire coding region of the COL6A3 gene to confirm or rule out Ullrich congenital muscular dystrophy type 1, a severe collagen VI-related myopathy. In the UAE, this analysis is used to confirm genetic diagnosis with high accuracy, helping physicians develop early treatment and care plans.
| Parameter | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% analytical sensitivity for single nucleotide variants and small indels; full gene coverage on Illumina NovaSeq X Plus | Sanger sequencing (limited to known hotspots, ~85% sensitivity) |
| Methodology | NGS (Next Generation Sequencing) – targeted gene panel with copy number variation analysis | Multiplex ligation-dependent probe amplification (MLPA) alone, missing deep intronic variants |
| Turnaround Time | 3–4 Weeks from sample receipt | 4–6 Weeks (fragmented workflow) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise that a positive COL6A3 result requires careful clinical correlation with muscle biopsy and imaging findings to avoid misdiagnosis. Genetic results should always be interpreted within the full clinical context and never used as the sole basis for altering respiratory support or rehabilitative therapy. A multidisciplinary team approach is essential.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Clinical Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic results may influence treatment decisions, but abrupt cessation can be life-threatening.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Active systemic infection, severe coagulopathy (INR >2.0), or inability to obtain informed consent from legal guardian (minors require consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- ER Red Flags: Sudden severe muscle weakness, respiratory distress, cyanosis, or new-onset cardiac arrhythmia. Seek immediate medical attention.
- Home collection is contraindicated for patients in unstable clinical condition; hospital-based phlebotomy is mandated.
Patient FAQ & Clinical Guidance
1. How is the COL6A3 genetic test performed, and what sample is required?
A: A single blood draw, extracted DNA, or one drop of blood on an FTA card is all that is needed. The test uses next-generation sequencing to read the entire COL6A3 gene with confirmation of any pathogenic variant by orthogonal methods. Our home collection team handles the cold‑chain transport in strict compliance with ISO protocols.
2. What does the 2800 AED price cover and does insurance reimburse it?
A: The fee covers the complete NGS workflow, bioinformatics analysis, a comprehensive clinical report, and one post‑test genetic counselling call. We provide direct billing verification via WhatsApp at +971 54 548 8731; many UAE insurers reimburse COL6A3 testing when preauthorization is obtained under neurological indications (ICD‑10 G71.0).
3. Can this test be done for a child or newborn, and is genetic counselling mandatory?
A: Yes, the test is safe for children and neonates when blood is collected by a pediatric phlebotomist. Pre‑test genetic counselling and a detailed pedigree chart are mandatory under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and the PDPL to protect minors’ genetic data. We provide this session with our certified genetic counsellor before sample collection.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance
This service operates in full compliance with UAE 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License 1143.
Clinical & Logistical Metadata
| Test Name | COL6A3 Gene Sequencing (Ullrich Congenital Muscular Dystrophy Type 1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (peripheral blood) |
| Methodology Used | Next Generation Sequencing (NGS) – targeted gene panel with CNV analysis |
| ICD-10-CM Code | G71.0, G71.2 |
| LOINC Code | 78025-3 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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