Test Price
2,800 AED✅ Home Collection Available
MATN3 Gene Spondyloepimetaphyseal Dysplasia Genetic Test in UAE | 2800 AED | DHA-Licensed
Executive Summary & Core Metrics
- ✓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 in result interpretation.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Clinical Overview & Diagnostic Positioning
The MATN3 Gene Spondyloepimetaphyseal Dysplasia Genetic Test is a definitive molecular diagnostic assay designed to detect pathogenic variants in the MATN3 gene associated with autosomal dominant spondyloepimetaphyseal dysplasia. It utilizes Next Generation Sequencing (NGS) for comprehensive coding region coverage, making it the gold standard over single-gene Sanger sequencing for identifying both known and novel variants.
| Feature | Our Test (NGS - UAE) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | >99.9% for Target Region | ~99% per amplicon |
| Methodology | NGS (Next Generation Sequencing) with Copy Number Analysis | Sanger Sequencing only |
| Speed (TAT) | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403): "Interpreting MATN3 results requires correlating genotype with skeletal radiographs. A negative NGS panel does not exclude all skeletal dysplasias, and variants of uncertain significance must be evaluated in the context of family history. I emphasize that this test is most powerful when combined with a thorough physical exam and pedigree analysis."
Advisory Information
⚠️ Important Clinical Advisory
Genetic testing is a diagnostic tool, not a substitute for ongoing clinical management. Always discuss test results with your healthcare provider before making any treatment decisions.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Patients unable to provide informed consent; infants under 28 days (heel-prick protocol not applicable for whole blood draw); acute hemolytic anemia requiring immediate intervention.
- ER Red Flags: If you experience sudden hearing loss, severe joint pain with fever, or acute vision changes, seek emergency care immediately. These symptoms are not related to the blood draw but may indicate progression of skeletal dysplasia complications.
- Sample Collection Contraindications: Do not proceed with collection if the patient is on high-dose anticoagulants (INR >3.5) or has active cellulitis at the venipuncture site.
Patient FAQ & Clinical Guidance
1. What does the MATN3 NGS test detect, and what does a positive result mean for my child's skeletal development?
A: This test identifies pathogenic mutations in the MATN3 gene causing spondyloepimetaphyseal dysplasia, directly confirming the genetic cause of short stature, spinal abnormalities, and early-onset osteoarthritis. A positive result guides orthopedic surveillance and physical therapy protocols for preserving joint function and mitigating degenerative changes.
2. Why choose this specific NGS test in the UAE over a whole exome sequencing (WES)?
A: A targeted MATN3 NGS panel provides 100% read depth for the gene of interest leading to higher diagnostic yield for this specific phenotype, avoids incidental findings unrelated to skeletal dysplasia, and costs 60% less than whole exome sequencing. This focused approach complies with DHA guidelines for phenotype-driven genetic testing, ensuring rapid results.
3. How is my DNA sample collected, stored, and protected under UAE privacy law?
A: DNA is extracted from a simple blood draw or FTA card, transported at 2-8°C under an ISO-certified cold chain, and de-identified prior to sequencing in strict compliance with UAE PDPL—your genetic data is never shared without explicit written consent.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service strictly adheres to 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. Genetic counselling is mandatory prior to testing.
Medical Liability: Clinical testing safety and patient consent are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Facility Accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | MATN3 Gene Spondyloepimetaphyseal Dysplasia Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with Copy Number Analysis |
| ICD-10-CM Code | Q77.7 |
| LOINC Code | 94222-7 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians