Test Price
2,800 AEDโ Home Collection Available
YARS2 Gene Myopathy, Lactic Acidosis, and Sideroblastic Anemia Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% analytical sensitivity via ISO 9001:2015 accredited Next Generation Sequencing (NGS) for complete YARS2 gene analysis.
- Premium Logistics: Temperature-controlled cold-chain home collection with VIP Mobile Phlebotomy available daily from 8 AM to 11 PM across Dubai and UAE.
- Clinical Guidance: Mandatory pre-test genetic counselling and post-test telephonic result interpretation by a licensed Consultant Medical Geneticist.
- Billing & Insurance: Direct billing verification available via WhatsApp +971 54 548 8731; competitive self-pay rate of 2,800 AED.
- Turnaround Time: Definitive molecular report issued within 3 to 4 weeks from sample receipt.
Test Overview & Methodology
This assay employs high-coverage Next Generation Sequencing (NGS) to analyze the entire coding region and flanking intronic sequences of the YARS2 gene. It identifies single nucleotide variants, small insertions/deletions, and splice-site aberrations responsible for Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2). The test replaces traditional single-gene Sanger sequencing as the first-line molecular diagnostic standard for this severe multisystem mitochondrial disorder.
| Feature | Our Test: NGS YARS2 Panel | Closest Alternative: MLPA / Sanger |
|---|---|---|
| Methodology | High-coverage Next Generation Sequencing (LC-MS/MS validated) | Multiplex Ligation-dependent Probe Amplification / Single-exon Sanger |
| Variant Detection | SNVs, Indels, and deep intronic splice-site variants across full gene | Limited to known deletions/duplications or hotspot point mutations |
| Diagnostic Speed | Definitive molecular diagnosis in 3โ4 weeks | Often requires sequential, iterative testing over 8+ weeks |
Physician Insight & Safety Protocols
โA positive YARS2 genotype provides molecular confirmation of a severe, progressive mitochondrial disease, yet clinical correlation with lactate trends and bone marrow aspirate findings remains non-negotiable. My advice is to use this result to guide reproductive counselling and multisystem management, but never as a standalone prognostic tool. The absence of a detected variant, however, does not exclude a diagnosis if the clinical phenotype is strong, as deep intronic or mitochondrial DNA deletions may be the culprit.โ
โ Consultant Medical Genetics Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Medication Advisory
Critical Medication Warning
Do not discontinue prescribed treatments, including iron chelators, anticonvulsants, or mitochondrial support supplements (e.g., CoQ10, Carnitine), without consulting your supervising neurologist or hematologist. Abrupt cessation may precipitate metabolic crisis or severe lactic acidosis.
Exclusion Criteria & Safety Precautions
- Exclusion: Home collection is contraindicated for patients with acute metabolic decompensation, severe thrombocytopenia (platelets < 50,000/ยตL), or current hemodynamic instability. Hospital-based specimen collection is mandated for these cases.
- Emergency Red Flag: Seek immediate care if the patient develops new-onset seizures, acute worsening of muscle weakness leading to respiratory distress, or a sudden drop in consciousness, especially following a febrile illness.
- Data Protection Advisory: Genetic data is classified as โsensitive personal dataโ under UAE 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. Explicit written consent is mandatory before sample collection, and all results are handled under strict confidentiality protocols.
Patient FAQ & Clinical Guidance
1. What exactly does the YARS2 gene test diagnose, and what do the results mean for my child's future?
This test provides a definitive molecular diagnosis for Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) by identifying disease-causing mutations in the YARS2 gene. A positive result confirms the genetic etiology, enabling accurate family risk assessment, prognosis guidance, and management options such as bone marrow transplant candidacy. A negative result may warrant deeper whole-exome sequencing to uncover other genetic mimics. All results are interpreted in conjunction with clinical and laboratory findings by a Consultant Medical Geneticist.
2. Why is pre-test genetic counselling mandatory for this NGS panel?
Pre-test genetic counselling is legally mandated under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and related health regulations to obtain fully informed consent, construct a comprehensive pedigree, and document the familial phenotype. This process ensures you understand the potential for Variants of Uncertain Significance (VUS), secondary findings, and the implications for family members. It transforms the raw DNA data into clinically actionable intelligence while protecting your psychological well-being and legal rights.
3. Can a blood sample be collected at home for a child, and what privacy measures are in place?
Yes, our trained phlebotomist can collect a peripheral whole blood sample via venipuncture or finger-prick onto an FTA card at your home, using a temperature-controlled cold-chain transport system compliant with ISO 9001:2015 standards to ensure DNA stability. The specimen is anonymized with a unique barcode, and all genetic data is encrypted and stored in compliance with UAE PDPL (Federal Decree-Law No. 45 of 2021) and Federal Law No. 2 of 2019. Explicit parental consent is required for minors, and results are shared only with the authorized requesting physician.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This diagnostic service strictly adheres to UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genetic data handling, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health records. Clinical safety and consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation & Licensing: DHA Facility License No. 1143 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | YARS2 Gene Myopathy, Lactic Acidosis, and Sideroblastic Anemia Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab / FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Full gene sequencing and CNV analysis |
| ICD-10-CM Code | D64.0 (Hereditary sideroblastic anemia), G71.3 (Mitochondrial myopathy, not elsewhere classified), E87.2 (Acidosis, lactic) |
| LOINC Code | 101645-1 (Genetic disease sequence analysis panel) |
| DHA Facility License & Laboratory Address | License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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