Test Price
2,800 AED✅ Home Collection Available
COL11A1 Gene Marshall Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance with a DHA-licensed genetic counsellor to interpret your results.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
COL11A1 gene-related Marshall syndrome is an autosomal dominant connective tissue disorder characterized by sensorineural hearing loss, early-onset cataracts, and distinctive facial features. This NGS test fully sequences the COL11A1 gene to identify pathogenic variants, enabling definitive diagnosis and personalized management. High-coverage next-generation sequencing is performed with orthogonal Sanger confirmation for all reported variants.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Standard Sanger Sequencing) |
|---|---|---|
| Precision & Coverage | 100% coverage of COL11A1 coding regions ± splice sites; detection of SNVs, indels, CNVs | Limited to targeted exonic regions; may miss deep intronic or large indel variants |
| Methodology | High-coverage NGS with orthogonal Sanger confirmation | Bidirectional Sanger sequencing of pre‑defined amplicons |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks |
| Clinical Utility | Definitive molecular diagnosis; familial variant segregation | Often requires sequential single‑exon testing; higher risk of incomplete diagnosis |
Physician Insight & Safety Protocols
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Precautions
Do not discontinue any prescribed medication without consulting your physician. If you experience sudden severe hearing loss, acute vision changes, or respiratory distress, seek emergency medical care immediately.
Exclusion Criteria
- Age below 18 years without documented parental or legal guardian consent.
- Inability to provide a suitable whole blood specimen or extracted DNA.
- Absence of clinical suspicion for Marshall syndrome or family history of COL11A1-related disorders.
- This test is not designed for prenatal diagnosis or preimplantation genetic testing without additional validation.
Patient FAQ & Clinical Guidance
1. What does a positive COL11A1 mutation result mean for my health?
A positive result confirms a diagnosis of Marshall syndrome, which requires lifelong monitoring for hearing loss and cataracts with early intervention. Your clinical team will schedule regular audiometry and ophthalmology exams. Because Marshall syndrome also affects joints and facial structure, a multidisciplinary approach is recommended.
2. Is this test suitable for children?
Yes, with documented parental consent, children suspected of Marshall syndrome can undergo testing to guide early management. Genetic counselling is mandatory to discuss implications and incidental findings before the blood draw.
3. How should I prepare for the blood draw?
No fasting is required, but a genetic counselling session beforehand is strongly recommended to understand potential outcomes. Our VIP phlebotomist will collect a small whole blood sample via standard venipuncture; you may resume normal activities immediately.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights
This molecular diagnostic service operates in full compliance with 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 genetic data is encrypted and stored within secure UAE-based servers. Your results are shared only with your consent and for the purpose of clinical care. For any concerns, contact our Data Protection Officer.
Clinical & Logistical Metadata
| Test Name | COL11A1 Gene Sequencing (Marshall Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (peripheral venous) |
| Methodology Used | High-coverage Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation |
| ICD-10-CM Code | Q87.0 (Marshall syndrome) |
| LOINC Code | 81260-5 (COL11A1 gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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