Test Price
2,800 AED✅ Home Collection Available
MYOT Gene Myotilinopathy Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This advanced genetic test offers precise diagnosis of myotilinopathy caused by MYOT gene mutations. Our ISO‑accredited laboratory guarantees 99.9% diagnostic sensitivity, supported by temperature‑controlled cold‑chain home collection, post‑test clinical guidance, and direct insurance verification via WhatsApp.
- ✔️ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- ✔️ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–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
The MYOT Gene Myotilinopathy NGS test screens all coding regions of the MYOT gene for pathogenic variants associated with myotilin‑related myopathy (limb‑girdle muscular dystrophy type 1A). Using next‑generation sequencing, the test delivers a high‑resolution genetic blueprint essential for confirming clinical diagnosis, guiding treatment, and informing family risk. The analysis covers single‑nucleotide variants, small insertions/deletions, and copy‑number variations.
| Feature | Our NGS MYOT Test | Standard Single‑Gene Sequencing |
|---|---|---|
| Technology | Next‑Generation Sequencing (Illumina NovaSeq, 300x depth) | Sanger sequencing of selected exons |
| Detection Rate | >99% of SNVs, indels & CNVs within the MYOT gene | Approximately 75–85% for point mutations only |
| Turnaround Time | 3–4 weeks | 6–12 weeks |
| Sample | Whole blood, extracted DNA, or dried blood spot (FTA card) | Whole blood only |
| Cost (AED) | 2800 | Varies; often >3500 without CNV analysis |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I remind patients that a genetic result is a roadmap, not a verdict. While this test can confirm myotilinopathy with remarkable accuracy, it must be interpreted together with your full clinical picture—muscle strength tests, electromyography, and sometimes a muscle biopsy. Never discontinue prescribed medication without consulting your doctor.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
🔴 Medication Warning
Do not discontinue prescribed medication (e.g., corticosteroids, immunosuppressants, or cardiac drugs) without explicit instruction from your treating physician. The test requires no medication changes.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion or bone marrow transplant (<3 months), active febrile infection, known allergy to phlebotomy antiseptics, inability to give informed consent (guardian required for minors).
- Emergency Red Flags – Seek Immediate Medical Attention: Sudden severe muscle weakness causing difficulty walking or lifting, new‑onset swallowing difficulties (dysphagia), shortness of breath while lying flat, or chest pain with irregular heartbeat.
Patient FAQ & Clinical Guidance
1. What is the MYOT gene and how does it relate to myotilinopathy?
Snippet Answer: The MYOT gene produces myotilin, a protein that maintains muscle fiber structural integrity; mutations cause myotilinopathy, a progressive limb‑girdle muscular dystrophy affecting proximal muscles and sometimes the heart.
Pre‑test Information: Provide a detailed clinical history. A genetic counselling session will be conducted to draw a three‑generation pedigree of family members affected with myotilinopathy. Acceptable samples: whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card.
2. What does a positive MYOT NGS result mean for my health and my family?
Snippet Answer: A positive result confirms a pathogenic MYOT variant, providing a definitive diagnosis, guiding surveillance for cardiac or respiratory complications, and enabling cascade screening in at‑risk relatives to assess carrier or presymptomatic status.
3. How is the sample collected, and what precautions should I take?
Snippet Answer: A small volume of whole blood (3–5 mL in EDTA tube) is drawn by a certified phlebotomist during the home visit; no fasting is required, but genetic counseling before sampling is mandatory to draw a pedigree and obtain informed consent.
Pre‑test Information: Provide a detailed clinical history. A genetic counselling session will be conducted to draw a three‑generation pedigree of family members affected with myotilinopathy. Acceptable samples: whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test 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. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 Certification No. INT/EGQ/2509DA/3139. All sample transport follows MOHAP standards for genetic sample transport.
Clinical & Logistical Metadata
| Test Name | MYOT Gene Myotilinopathy NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq, 300x depth) |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 91247-9 |
| DHA Facility License & Laboratory Address | Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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