Test Price
2,800 AED✅ Home Collection Available
YARS2 Gene Myopathy, Lactic Acidosis, and Sideroblastic Anemia Type 2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين YARS2 للاعتلال العضلي والحماض اللاكتيكي وفقر الدم الأرومي الحديدي من النوع 2 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM - 11 PM).
- Clinical Guidance: Mandatory Pre- and Post-Test Genetic Counselling with Telephonic Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: فحص جين YARS2 باستخدام تقنية التسلسل الجيني المتقدم (NGS) لكشف طفرات الاعتلال العضلي والحماض اللاكتيكي وفقر الدم الأرومي الحديدي من النوع 2. خدمة منزلية معتمدة من هيئة الصحة بدبي (DHA) بضمان خصوصية بيانات قانون حماية البيانات الشخصية (PDPL) الإماراتي. السعر 2800 درهم، النتائج خلال 3-4 أسابيع، بدقة تشخيصية 99.9% تحت إشراف استشاريين معتمدين.
Clinical Overview & Diagnostic Precision
This test employs Next Generation Sequencing (NGS) to analyze the entire coding region of the YARS2 gene, identifying pathogenic variants responsible for a severe multisystem disorder combining mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. (هذا التحليل الجيني الشامل مخصص لتحديد الطفرات المسببة لمرض نادر ومعقد يجمع بين أعراض عصبية ودموية خطيرة). It is the definitive diagnostic standard, replacing single-gene Sanger sequencing for this phenotype.
| 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 region | Limited to known deletions/duplications or hotspot point mutations |
| Diagnostic Speed | Definitive molecular diagnosis in 3-4 Weeks | Often requires sequential, iterative testing over 8+ weeks |
Physician Insight & Safety Protocol
“A 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.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011, Clinical Pathologist & Geneticist
Critical Medication Warning
Do not discontinue prescribed medication, 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 & Emergency Red Flags
- Exclusion: Home collection is contraindicated for patients with acute metabolic decompensation, severe thrombocytopenia (platelets < 50,000/µL), or current hemodynamic instability. Hospital-based specimen collection is mandated for these cases.
- ER Red Flag: Seek immediate emergency care for the patient if they develop new-onset seizures, acute worsening of muscle weakness leading to respiratory distress, or a sudden drop in consciousness, especially following a febrile illness.
- PDPL Advisory: As per UAE Federal Law, genetic data is classified as 'sensitive personal data'. Explicit, written consent is mandatory before sample collection for minors under the 2026 Communicable Diseases Surveillance (CDS) Law.
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, which clarifies prognosis and guides precise, multisystemic management including potential bone marrow transplant candidacy. A positive result confirms the genetic etiology, enabling accurate family risk assessment, while a negative result may warrant deeper whole-exome sequencing to uncover other genetic minickers. (إذا كانت النتيجة إيجابية، فإنها تؤكد التشخيص بدقة وتفتح الباب لخيارات علاجية محددة وتقييم مخاطر الأقارب).
2. Why is a pre-test genetic counselling session mandatory for this specific NGS panel?
A pre- genetic counselling session is legally mandated under UAE Decree-Law No. 41 of 2024 (Article 87) to draw a comprehensive pedigree, document the familial phenotype, and obtain fully informed consent, ensuring you understand the potential for Variants of Uncertain Significance (VUS) and secondary findings. This process protects your psychological well-being and legal rights, transforming the raw DNA result into clinically actionable intelligence tailored to your family's unique genetic architecture. (جلسة الاستشارة الوراثية إلزامية لحماية حقوقك القانونية وضمان فهمك الكامل لتداعيات النتائج المحتملة).
3. هل يمكن استخدام بطاقة FTA لأخذ العينة من طفل صغير في المنزل، وما هي إجراءات الخصوصية؟
نعم، يمكن لأخصائي الفصد المتنقل المعتمد لدينا أخذ عينة دم عن طريق وخز الإصبع على بطاقة FTA بأمان تام من طفلك في المنزل، وهذه الطريقة تخضع لنظام سلسلة تبريد صارم بموجب شهادة الأيزو 9001:2015 لضمان استقرار الحمض النووي خلال النقل. يتم تشفير بيانات طفلك الجينية وتخزينها بما يتوافق تماماً مع قانون حماية البيانات الشخصية الإماراتي (PDPL) وتعديلات قانون الأمراض السارية 2026 للقاصرين، حيث يتم ربط ملفه برمز شريطي فريد غير معرّف للهوية لضمان أقصى درجات السرية.
UAE Regulatory & Accreditation Notice
This service strictly adheres to Federal Decree-Law No. 41 of 2024 on the Regulation of Human Genetic Testing (Article 87) and the 2026 UAE Communicable Disease Surveillance (CDS) Law concerning minors. Data privacy is enforced under UAE PDPL.
Facility License: 9834453 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Methodology: High-Coverage Next Generation Sequencing (NGS), equivalent to LC-MS/MS validated panels. LOINC Code: 101645-1 (Genetic disease sequence analysis panel). ICD-10-CM Codes: D64.0 (Hereditary sideroblastic anemia), G71.3 (Mitochondrial myopathy, not elsewhere classified), E87.2 (Acidosis, lactic).
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