Test Price
2,800 AED✅ Home Collection Available
ACTA1 Gene Myopathy (Scapulohumeroperoneal) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Excellence & Patient-Centric Care
- Diagnostic Accuracy: 99.9% sensitivity via ISO‑certified Next‑Generation Sequencing (NGS) technology, validated against international genomic databases.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, ensuring sample integrity.
- Clinical Guidance: Telephonic post‑test result interpretation by a DHA‑licensed Consultant Medical Geneticist, ensuring informed decision‑making.
- Insurance Support: Direct billing verification available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The ACTA1 gene test screens for mutations linked to autosomal dominant scapulohumeroperoneal myopathy, a rare congenital neuromuscular disorder, using targeted NGS for precise variant identification. The test covers all coding regions and exon-intron boundaries of the ACTA1 gene.
| Feature | Our Test (DHA-Accredited) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% coverage of ACTA1 coding regions via NGS | ~99% but limited to known hotspots; may miss intronic/splice variants |
| Methodology | Next‑Generation Sequencing (Illumina® platform, bioinformatically validated) | Sanger sequencing (lower throughput) |
| Turnaround Time | 3–4 weeks (rigorous multi‑stage bioinformatics) | 6–8 weeks (often requires multiple runs) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I understand the emotional weight a potential genetic myopathy diagnosis carries. This NGS test is exceptionally precise, but I always counsel that results must be integrated with your full clinical picture and family history. Genetic testing is a tool, not a standalone diagnosis.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Advisory: Medication & Clinical Context
Do not discontinue any prescribed medication without consulting your doctor.
Genetic test results require clinical correlation and may not replace ongoing therapy. Always discuss findings with your treating physician before making changes to your management plan.
Exclusion Criteria & Red Flags
- Minors: Must have signed legal guardian consent in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability; unaccompanied testing prohibited.
- Inability to provide a 4 ml EDTA blood sample (e.g., severe coagulopathy unless cleared by physician).
- Emergency red flags: If you experience sudden inability to lift the arms, difficulty breathing, or unexplained chest pain before your collection, go directly to the nearest Emergency Department.
Patient FAQ & Clinical Guidance
1. What exactly does the ACTA1 gene test detect?
This next-generation sequencing test detects point mutations, small insertions/deletions, and splice-site variants in the ACTA1 gene causing autosomal dominant scapulohumeroperoneal myopathy with 99.9% accuracy.
2. How soon are results available, and what does the process involve?
Results are typically ready in 3–4 weeks after a single blood draw; this time includes DNA extraction, library preparation, sequencing, and multi-stage bioinformatic analysis.
3. Can I have the sample collected at home, and is it safe for the sample?
Yes, our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service sends trained phlebotomists to your home from 8 AM to 11 PM daily, ensuring sample integrity and identical accuracy to in-clinic draws.
UAE Regulatory & Data Privacy Adherence
- Strictly compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic data privacy and processing.
- Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health records.
- Informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ACTA1 Gene Myopathy (Scapulohumeroperoneal) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube, 4 ml) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform |
| ICD-10-CM Code | G71.2 (Congenital myopathy) |
| LOINC Code | 21636-6 (Genetic testing) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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