Test Price
2,800 AED✅ Home Collection Available
YARS1 Gene DI‑CMTC Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑certified next‑generation sequencing, validated under DHA quality standards.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post‑test clinical interpretation and genetic counselling support included in the service.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The YARS1 Gene DI‑CMTC NGS test screens the entire coding sequence of the YARS1 gene using next‑generation sequencing to detect pathogenic variants associated with distal hereditary motor neuropathy with cataracts and mild intellectual disability (DI‑CMTC). This molecular diagnostic approach provides comprehensive coverage of all exons and flanking intronic regions, enabling detection of single‑nucleotide variants, insertions, and deletions with high analytical sensitivity.
| Feature | Our Test (NGS Full‑Gene) | Closest Alternative (Sanger Panel) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity | ~95% due to limited exons |
| Method | Next‑Generation Sequencing (NGS) | Sanger Sequencing (selected regions) |
| Speed | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
"As a consultant in medical genetics, I recognise that receiving a YARS1‑positive result can understandably raise concerns for patients and families. This test provides a definitive molecular diagnosis, yet the results must always be correlated with clinical findings, nerve conduction studies, and a comprehensive family history. Genetic counselling is an integral part of this process — you are not alone in navigating this journey."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Advisory & Contraindication Criteria
Exclusion Criteria: This test should not be performed without medical clearance if the patient is unable to provide informed consent, has a known severe coagulopathy or bleeding disorder, or is experiencing acute psychiatric distress that precludes meaningful genetic counselling.
Emergency Red Flags: Sudden worsening of limb weakness, respiratory difficulty, altered consciousness, or severe visual loss requires immediate emergency care. This genetic test is not intended for acute diagnostic evaluation.
Pre-Test Requirements
A documented clinical history and a formal genetic counselling session — including pedigree chart construction — must be completed before sample collection. Results will be interpreted in the context of the patient's full clinical presentation.
Patient FAQ & Clinical Guidance
1. What is the YARS1 DI‑CMTC gene test and who should consider it?
This test identifies pathogenic variants in the YARS1 gene to confirm a diagnosis of distal hereditary motor neuropathy with cataracts and mild intellectual disability (DI‑CMTC). It is appropriate for individuals presenting with progressive distal muscle weakness, sensory loss, cataracts, and developmental delay, particularly when a genetic aetiology is suspected. Neurologists and geneticists use the result to guide management, surveillance, and family counselling.
2. How is the test performed and what does 99.9% sensitivity mean?
A standard peripheral blood sample is collected via routine phlebotomy. DNA is extracted and the entire YARS1 gene is analysed by next‑generation sequencing. A sensitivity of 99.9% means that if a pathogenic variant exists within the sequenced regions, the test will detect it with near‑certainty, minimising false‑negative results.
3. What do the results mean and how will I receive genetic counselling?
A positive result confirms a YARS1‑associated DI‑CMTC diagnosis, enabling targeted clinical management, appropriate referrals, and family variant testing. A negative result reduces but does not eliminate the possibility of a genetic cause. Our DHA‑licensed genetics team provides post‑test telephonic counselling to explain the result, discuss implications, and outline next steps.
4. Is home sample collection available for this genetic test?
Yes, for standard peripheral blood samples, our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM. Samples are transported under temperature‑controlled cold‑chain conditions to our ISO‑certified laboratory for analysis.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: DNA Labs UAE operates 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. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes with explicit patient consent.
Medical Liability & Patient Safety: Clinical testing and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that every stage — from pre‑test counselling to result disclosure — meets the highest standards of care and legal accountability.
Clinical & Logistical Metadata
| Test Name | YARS1 Gene DI‑CMTC NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (also accepts FTA card, DNA extract) |
| Methodology Used | Next‑Generation Sequencing (NGS) — full‑gene analysis |
| ICD‑10‑CM Code | G60.0 |
| LOINC Code | 51966-5 |
| DHA Facility License & Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Operated by DNA Labs UAE |
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