Test Price
2,800 AED✅ Home Collection Available
AARS1 Gene (CMT2N) Genetic Test in UAE
Executive Summary & Core Metrics
Test Overview & Methodology
The AARS1 gene encodes alanyl-tRNA synthetase; pathogenic variants cause autosomal dominant axonal Charcot-Marie-Tooth disease type 2N (CMT2N), characterized by progressive distal muscle weakness and sensory loss. This NGS-based test detects single nucleotide variants and small insertions/deletions in the AARS1 gene with 99.9% analytical sensitivity and specificity.
| Feature | Our AARS1 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Technology | Targeted NGS (full gene & CNV) | Whole Exome Sequencing |
| Turnaround Time | 3-4 weeks | 6-8 weeks |
| Variant Interpretation | Gene-specific ACMG classification | Broad incidental findings |
| Clinical Focus | Directly answers CMT2N suspicion | May require secondary analysis |
| Cost (AED) | 2,800 | 5,000 – 8,000 |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics licensed by the Dubai Health Authority (DHA: 9294403), I emphasize that this genetic test provides valuable diagnostic confirmation; however, it must be interpreted alongside clinical phenotype and electromyography findings. A positive result enables family planning and targeted management, while a negative result may warrant further neuromuscular workup. Please consult your treating physician before discontinuing any prescribed medications."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics
Advisory: Medication & Clinical Management
⚠️ Do not discontinue prescribed medication without consulting your doctor. Genetic test results alone are not a substitute for clinical management.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Minors under 18 without legal guardian consent and mandatory genetic counseling as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability; patients unable to provide informed consent; individuals with severe coagulopathy precluding safe venipuncture.
- Emergency Red Flags: Sudden onset of respiratory distress, rapidly progressive quadriparesis, or acute dysphagia — seek emergency medical attention immediately. This test is not for acute crisis diagnosis.
Patient FAQ & Clinical Guidance
1. How accurate is the AARS1 NGS test for diagnosing CMT2N?
Our NGS test delivers 99.9% analytical sensitivity and specificity for detecting single nucleotide variants and small insertions/deletions in the AARS1 gene. This high precision meets clinical validation standards and surpasses older Sanger-based methods by covering deep intronic regions and copy number changes, ensuring no pathogenic variant is missed in the coding and adjacent splice sites. The test is interpreted using ACMG guidelines by board‑certified molecular geneticists.
2. What does a positive AARS1 result mean for my family?
A positive result confirms autosomal dominant inheritance, meaning each child has a 50% risk of inheriting the condition. This information is vital for family planning, preconception counseling, and cascade testing of at‑risk relatives. Genetic counselors will help you construct a detailed pedigree and explain the implications for siblings, parents, and extended family, ensuring everyone receives appropriate surveillance and management.
3. How do I prepare for the blood collection and genetic counseling?
No fasting is required, but you must complete a pre-test genetic counseling session to chart a three-generation pedigree. During this session, a certified genetic counselor reviews your neurological history, collects family information, and obtains informed consent. After the blood draw by a DHA‑licensed phlebotomist, the sample is immediately placed in a cold‑chain container and transported to our ISO‑certified laboratory.
UAE Regulatory & Data Privacy Adherence
This genetic test is executed 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 adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and undergoes regular external quality assessments by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | AARS1 Gene (CMT2N) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood |
| Methodology Used | Targeted next-generation sequencing (NGS) with copy number variant (CNV) detection |
| ICD-10-CM Code | G60.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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