Test Price
2,800 AED✅ Home Collection Available
ANO5 Gene Miyoshi Muscular Dystrophy Type 3 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary — Clinical Synopsis
This advanced Next‑Generation Sequencing (NGS) test detects pathogenic variants in the ANO5 gene to confirm Miyoshi muscular dystrophy type 3 and related ANO5‑associated myopathies. All processing occurs in a UAE‑licensed, ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139), delivering medically actionable reports within 3–4 weeks.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Hospital‑Grade Home Collection via VIP Mobile Phlebotomy with Temperature‑Controlled Cold‑Chain (8 AM – 11 PM, Daily).
- Clinical Guidance: Post‑test telephonic consultation with a clinical genetic counsellor included.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ANO5 gene test employs high‑coverage NGS to sequence all coding exons and flanking intronic regions, detecting single nucleotide variants, indels, and copy number changes. This definitive molecular diagnosis rules out phenotypically similar limb‑girdle and distal myopathies, guiding targeted management and family planning. Every pathogenic variant is confirmed by independent Sanger sequencing, ensuring analytic specificity exceeding 99.9%.
| Feature | Our Test (NGS Panel) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity, detects CNVs | >99% for point mutations; misses large rearrangements |
| Methodology | Illumina NGS + confirmatory Sanger | Sanger sequencing only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognise that interpreting ANO5 gene variants requires rigorous clinical correlation. A positive molecular finding confirms the diagnosis of Miyoshi muscular dystrophy type 3 but must be carefully integrated with the patient’s physical examination, electromyography findings, and family history. Importantly, a negative result does not exclude all possible myopathies, and regular multidisciplinary follow‑up remains vital for optimal patient outcomes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Precautions & Clinical Guidance
- Transfusion Interference: Blood from patients who received a whole blood transfusion in the preceding 14 days may yield mixed DNA profiles — reschedule if possible.
- Emergency Red Flags: Sudden worsening of muscle weakness, difficulty swallowing, or breathing difficulty requires immediate emergency care. This genetic test is not intended for acute diagnostic purposes.
- Informed Consent & Minors: Testing of individuals under 18 years requires joint consent from both parents or a legal guardian, in full compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria and Contraindications
- Patients with known haematological malignancies or bone marrow transplant recipients may show donor‑derived DNA profiles; alternative tissue analysis (e.g., skin biopsy) is recommended.
- Active systemic infection or severe immunosuppression may delay sample processing — consult the laboratory prior to collection.
- Individuals who have received an experimental gene therapy within the past 6 months should discuss potential interference with the interpreting geneticist.
Patient FAQ & Clinical Guidance
1. What exactly does the ANO5 gene test reveal for Miyoshi muscular dystrophy type 3?
The ANO5 gene test uses next‑generation sequencing to identify disease‑causing mutations in the ANO5 gene, confirming Miyoshi muscular dystrophy type 3 with >99.9% accuracy. It detects point mutations, small insertions/deletions, and exon‑level copy number variants, providing a definitive molecular diagnosis. A positive result rules in the condition and helps predict progression, while a negative result may prompt evaluation for other distal myopathies. Post‑test genetic counselling is provided to interpret all findings.
2. Who should consider taking this genetic test?
This is indicated for individuals with progressive distal leg muscle weakness, calf atrophy, and highly elevated creatine kinase levels suggestive of Miyoshi myopathy. It is also crucial for at‑risk family members seeking predictive or carrier testing, and for couples planning a family who wish to understand recurrence risk. A prior genetic counselling session is mandatory to discuss the implications of testing before sample collection.
3. How long until I receive my result and what does the report contain?
The full clinical report is delivered within 3 to 4 weeks from sample arrival, encompassing variant classification, zygosity, and evidence‑based clinical commentary. Each report includes pathogenicity interpretation correlated with Miyoshi dystrophy type 3, along with specific recommendations for follow‑up care. A telephonic consultation with a clinical genetic counsellor is included to review findings in detail.
4. What sample type is required and how is it collected?
A peripheral whole blood sample (5–10 mL in EDTA) is required for this NGS analysis. Collection is performed via VIP Mobile Phlebotomy at your home or office between 8 AM and 11 PM daily, with temperature‑controlled cold‑chain transport to our ISO‑certified laboratory. For patients unable to provide blood, an alternative buccal swab may be considered after consultation with the genetic team.
5. How does UAE law protect my genetic data?
Your genetic information is 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. All genomic data is encrypted, access‑restricted, and stored on UAE‑based secure servers. Results are released only to the ordering physician and the patient with explicit written consent. DNA Labs UAE adheres to strict DHA audit protocols for data privacy and security.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and maintains full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all patient genomic and clinical data is processed lawfully, transparently, and with the highest security standards. The laboratory also adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which governs electronic health records, telemedicine, and the secure transmission of medical data. All testing protocols follow the medical liability framework established by Federal Decree‑Law No. 4 of 2016 on Medical Liability, safeguarding patient consent and clinical accountability.
Our ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) reflects our commitment to quality management, continuous improvement, and patient safety. Every genetic report is reviewed and authorised by a DHA‑licensed Consultant Medical Geneticist before release.
Clinical & Logistical Metadata
| Test Name | ANO5 Gene Miyoshi Muscular Dystrophy Type 3 Genetic Test (NGS Panel) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (5–10 mL in EDTA) — VIP Mobile Phlebotomy Available |
| Methodology Used | Next‑Generation Sequencing (Illumina NGS) with Confirmatory Sanger Sequencing |
| ICD-10-CM Code | G71.0 (Muscular dystrophy) |
| LOINC Code | 94051-0 (Muscular dystrophy gene panel) |
| DHA Facility License & Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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