Test Price
2,800 AED✅ Home Collection Available
MMP14 Gene Winchester Syndrome Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑certified next‑generation sequencing (NGS) with orthogonal confirmation by Sanger sequencing for all clinically actionable variants.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. Hospital‑grade specimen handling with real‑time chain‑of‑custody tracking.
Clinical Guidance: Telephonic post‑test interpretation and genetic counselling by a DHA‑licensed Consultant Medical Geneticist, including a detailed clinical report with variant classification per ACMG guidelines.
Insurance: Direct billing verification and pre‑authorization support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This diagnostic assay employs clinical‑grade next‑generation sequencing (NGS) to analyse the complete coding region and conserved splice‑site junctions of the MMP14 gene. Winchester syndrome (MIM #277950) is a rare autosomal recessive disorder characterised by progressive osteolysis, subcutaneous nodular fibrosis, coarsening of facial features, and joint contractures. Definitive molecular confirmation of biallelic pathogenic variants in MMP14 enables accurate genetic counselling, prognostic stratification, and tailored multidisciplinary surveillance involving rheumatology, dermatology, orthopaedics, and clinical genetics.
The sequencing workflow achieves a mean depth of coverage exceeding 150× across all target regions, with 100% uniformity. All clinically significant variants are independently confirmed by Sanger sequencing. Copy number variant (CNV) analysis is performed using a validated bioinformatics pipeline to detect intragenic deletions or duplications that may escape standard short‑read sequencing.
| Feature | DNA Labs UAE MMP14 NGS Assay | Standard Single‑Exon Sanger Panel |
|---|---|---|
| Detection Method | Full‑gene NGS + CNV analysis + Sanger confirmation | Single‑exon Sanger or limited hotspot panel |
| Diagnostic Sensitivity | >99.9% for coding, splice‑site, and CNV variants | ~85–90% (misses deep intronic and large CNVs) |
| Turnaround Time | 3–4 weeks standard; 2‑week express option available | 4–6 weeks; no expedited workflow |
| UAE Regulatory Adherence | Full compliance with Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 (ICT in Health) | Variable; may not meet all data protection and ICT governance standards |
Physician Insight & Safety Protocols
“The MMP14 NGS assay delivers a definitive molecular diagnosis for Winchester syndrome, which is essential for accurate genetic counselling and anticipatory surveillance of associated osteo‑dermato‑immunological complications. A negative result does not exclude atypical presentations, novel variants, or phenocopies, and must be interpreted in the context of complete clinical, radiographic, and dermatological findings. We strongly advocate for coordinated multidisciplinary care involving a rheumatologist, dermatologist, and clinical geneticist to optimise long‑term outcomes for affected individuals and their families.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Clinical Advisory
This genetic diagnostic test is intended as a clinical decision support tool and does not replace comprehensive medical evaluation by a qualified physician. Patients should continue all prescribed therapies and follow‑up appointments unless explicitly directed otherwise by their treating specialist. Any alteration to medication or management plans must be made solely by the responsible healthcare provider.
Exclusion Criteria & Emergency Indicators
- Active systemic infection or uncontrolled coagulopathy must be clinically stabilised before phlebotomy.
- Patients with a known hypersensitivity to latex, chlorhexidine, or alcohol‑based antiseptics must inform the collection team in advance.
- Emergency Red Flags: Acute joint deformity with neurovascular compromise, sudden unilateral vision loss, or rapidly progressive respiratory distress require immediate emergency department evaluation and may indicate advanced osteolysis or vascular complications requiring urgent intervention.
Patient FAQ & Clinical Guidance
1. What sample type is required for the MMP14 genetic test?
A standard peripheral whole blood sample (3–5 mL in an EDTA tube) is the preferred specimen. Alternatively, extracted genomic DNA (minimum 1 µg) or a dried blood spot on an FTA card may be accepted. Our VIP mobile phlebotomy team can collect the sample at your home or office between 8 AM and 11 PM daily, using temperature‑controlled cold‑chain transport to ensure specimen integrity.
2. How will the genetic test results influence my clinical management?
A confirmed molecular diagnosis of Winchester syndrome enables your rheumatologist and dermatologist to implement targeted surveillance protocols, including serial imaging for osteolysis progression, echocardiographic monitoring for valvular involvement, and screening for immunological dysfunction. It also facilitates precise recurrence risk counselling for family planning and may open eligibility for emerging targeted therapies under clinical trial protocols.
3. How is my genetic data protected under UAE law?
All genetic and personal data are strictly protected under 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. Data are encrypted at rest and in transit, access is restricted to authorised clinical personnel, and raw sequence data are securely destroyed 10 years post‑reporting unless separate explicit consent for research use has been obtained.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This diagnostic service operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres fully to UAE federal legislation governing genetic testing, medical data privacy, and health information technology. All patient‑identifiable data are processed, stored, and transmitted in 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. Clinical consent, result disclosure, and post‑test counselling follow the provisions of Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring patient autonomy and informed decision‑making throughout the testing pathway.
Clinical & Logistical Metadata
| Test Name | MMP14 Gene Sequencing (Winchester Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (standard); 2 weeks (express option available) |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis and Sanger confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21619-0 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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