Test Price
2,800 AED✅ Home Collection Available
COL6A2 (Ullrich Congenital Muscular Dystrophy) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139). Every nucleotide is sequenced to ≥30x depth with full exon coverage and splice site analysis.
- PREMIUM LOGISTICS VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Sample integrity maintained at 2–8°C throughout.
- Clinical Guidance: Complimentary 15-minute telephonic post-test clinical guidance session with a DHA-registered medical geneticist to interpret results in context of family and clinical history.
- Insurance: Direct Billing Verification and pre-authorisation support via WhatsApp at +971 54 548 8731. We work with all major UAE insurers.
Test Overview & Methodology
This NGS test analyses the entire coding sequence and exon–intron boundaries of the COL6A2 gene to detect single nucleotide variants, small indels, and copy number changes associated with Ullrich congenital muscular dystrophy (UCMD)—a severe early-onset collagen VI-related myopathy.
| Feature | Our Test (DHA-Aligned) | Closest Alternative (Standard Panel) |
|---|---|---|
| Precision | Full gene sequencing (all exons + UTRs) with CNV calling; 99.9% analytical sensitivity | Targeted mutation hotspot analysis only; may miss novel or deep intronic variants |
| Methodology | NGS (Illumina NovaSeq X Plus) with Sanger confirmation of clinically significant variants | Sanger sequencing of limited exons or microarray |
| Turnaround Time | 3–4 weeks | 6–8 weeks or more |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that a positive COL6A2 result provides critical diagnostic clarity but must be interpreted within the full context of neuromuscular examination, family pedigree, and clinical history. I strongly recommend pre- and post-test genetic counselling. Early intervention with physiotherapy and respiratory monitoring can significantly improve outcomes for children with Ullrich congenital muscular dystrophy.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or modify prescribed medications (e.g., corticosteroids, antiepileptics, or cardiac agents) without consulting your supervising physician. Genetic test results do not replace acute clinical management.
Exclusion Criteria & ER Red Flags
- Home collection is not performed for patients currently admitted to an ICU or requiring continuous ventilatory support.
- If the patient exhibits sudden respiratory distress, severe hypotonia with feeding difficulties, or loss of consciousness, seek emergency medical care immediately—do not wait for test results.
- This test is not a substitute for a clinical diagnosis; negative results do not rule out the condition if clinical suspicion remains high.
Patient FAQ & Clinical Guidance
1. How accurate is this COL6A2 NGS test for confirming Ullrich congenital muscular dystrophy?
Our NGS assay achieves 99.9% analytical sensitivity and specificity for single nucleotide variants and copy number variations across the COL6A2 gene, with every clinically significant variant confirmed by Sanger sequencing.
2. What sample is required and can it be collected at home?
A single blood sample (2–3 mL in EDTA tube) is collected by a DHA-licensed phlebotomist during a home visit scheduled via WhatsApp, with cold-chain transport to our ISO-certified lab. VIP home collection is available daily from 8 AM to 11 PM.
3. Do I need genetic counselling before the test?
Yes, a mandatory pre-test genetic counselling session (included) constructs a detailed pedigree chart to assess inheritance patterns and ensures informed consent, aligning with UAE regulations on medical liability and patient rights.
4. How long does it take to get results?
The standard turnaround time is 3–4 weeks from sample receipt at the lab. Results are delivered electronically via a secure patient portal with a detailed clinical interpretation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This laboratory operates under the following UAE federal regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – all patient health data is processed and stored in full compliance.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governs the secure handling of electronic health records and telehealth services.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – governs patient consent and clinical safety during specimen collection and reporting.
Our facility holds DHA Facility License Number: 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE) and ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). This test is intended for clinical use by neurologists, pediatricians, and geneticists; it is not a direct-to-consumer product.
Clinical & Logistical Metadata
| Test Name | COL6A2 (Ullrich Congenital Muscular Dystrophy) Genetic Test |
| 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 (Illumina NovaSeq X Plus) with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | G71.0 (Muscular dystrophy) |
| LOINC Code | 100049-4 (Neuromuscular disease gene panel) |
| DHA Facility License & Address | DNA Labs UAE | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians