Test Price
2,800 AED✅ Home Collection Available
MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 certified NGS workflow (Certificate: INT/EGQ/2509DA/3139).
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM.
- Medical Counselling: Post-result teleconsultation with a Consultant Medical Geneticist for result interpretation.
- Insurance Verification: Direct check via WhatsApp +971 54 548 8731.
- Regulatory Compliance: Fully 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 ICT in Health Fields.
Test Code: MTMR14-NGS-DHA | TAT: 3–4 Weeks | Sample: Blood, Extracted DNA, or FTA Card | Facility License: 1143
Test Overview & Methodology
The MTMR14 genetic test employs Next-Generation Sequencing to detect pathogenic variants in the MTMR14 gene, establishing a molecular diagnosis for autosomal recessive centronuclear myopathy type 1. This test is essential for differential diagnosis of congenital myopathies, carrier screening, and informed family planning.
| Parameter | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% Sensitivity / 99.8% Specificity (ISO‑validated NGS with Sanger confirmation) | 97% Sensitivity (PCR‑based single‑exon screening) |
| Methodology | NGS (Next‑Generation Sequencing) with full coding region & splice sites | Sanger sequencing of selected exons |
| Speed | 3–4 Weeks (includes comprehensive report & counselling) | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasise that an MTMR14 genetic result must be interpreted within a comprehensive neuromuscular workup. A negative report does not exclude other congenital myopathies; variants of uncertain significance require dedicated genetic counselling. Always integrate test findings with histopathology, electromyography, and family pedigree.”
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue prescribed therapy without consulting your doctor. Centronuclear myopathy often requires ongoing supportive care; abrupt cessation may lead to respiratory or cardiac complications.
Exclusion Criteria & Red Flags
- Sample collection is contraindicated if the venipuncture site shows active infection, cellulitis, or extensive burns.
- Emergency red flags: sudden worsening of muscle weakness, difficulty swallowing, or shortness of breath – seek immediate medical attention before scheduling elective testing.
- Paediatric patients (<1 year) require a specialised paediatric phlebotomist and prior clearance from the attending neurologist.
Patient FAQ & Clinical Guidance
1. What is the MTMR14 gene test used for?
This NGS-based genetic test identifies mutations in the MTMR14 gene responsible for autosomal recessive centronuclear myopathy type 1, a congenital muscle disorder. It aids in confirming a clinical diagnosis, guiding treatment decisions, and assessing reproductive risk for families with a history of early-onset muscle weakness.
2. How should I prepare for the test?
You need to provide a clinical history and attend a pre-test genetic counselling session to draw a detailed family pedigree. No fasting is required for blood collection. If using an FTA card, one drop of blood is sufficient. Our home collection team arrives with cold-chain materials and all necessary documentation.
3. What do the results mean?
A positive result confirms a disease-causing mutation in both copies of MTMR14, establishing the diagnosis of centronuclear myopathy type 1. A negative result or a variant of uncertain significance requires correlation with muscle biopsy and clinical findings. Our post-test teleconsultation with a Consultant Medical Geneticist explains all implications.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed under the strict regulatory framework of the Dubai Health Authority (DHA). Patient genetic data is processed 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. Clinical safety and patient consent align with Federal Decree-Law No. 4 of 2016 on Medical Liability. All sample handling and genomic data storage employ encryption and access controls to safeguard confidentiality.
Clinical & Logistical Metadata
| Test Name | MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding region & splice sites |
| ICD-10-CM Code | G71.2 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians