Test Price
2,800 AED✅ Home Collection Available
AARS1 Gene (CMT2N) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين AARS1 (CMT2N) بتقنية NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي: يقدم اختبار تسلسل الجين AARS1 (الجيل التالي) في الإمارات تشخيصًا دقيقًا لمرض شاركو-ماري-توث من النوع 2N بدقة تصل إلى 99.9%، مع خدمة سحب منزلي مبرد وفق معايير الآيزو، واستشارة وراثية قبل وبعد الفحص، وتغطية تأمينية عبر التحقق المباشر. النتائج خلال ٣-٤ أسابيع.
What is the AARS1 Gene CMT2N Genetic Test?
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. هذا الاختبار الجيني بتقنية NGS يكشف الطفرات في جين AARS1 بدقة عالية لتأكيد التشخيص السريري وتوجيه الإرشاد الوراثي العائلي.
| 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 |
Clinical Oversight & Safety Protocol
"As a Consultant Neurologist licensed by the Dubai Health Authority (DHA: 61713011), I emphasize that this genetic test provides valuable diagnostic confirmation; however, it must be interpreted alongside electromyography and clinical phenotype. Please do not discontinue any prescribed neurological medications without consulting your treating physician. A positive result opens the door to family planning and targeted physiotherapy, while a negative result may warrant further neuromuscular workup."
— Dr. PRABHAKAR REDDY, DHA Consultant Neurologist
⚠️ 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 CDS Law 2026; 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 Frequently Asked Questions
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.
يتمتع اختبارنا بنسبة حساسية وتحليلية تبلغ 99.9% للكشف عن الطفرات النقطية وعمليات الإدخال/الحذف الصغيرة في جين AARS1، مما يوفر تشخيصًا موثوقًا لمرض شاركو-ماري-توث من النوع 2N.
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.
النتيجة الإيجابية تؤكد الوراثة الجسدية السائدة، مما يعني أن كل طفل لديه احتمالية 50% لوراثة الحالة، ويجب استشارة أخصائي الوراثة لتقييم أفراد العائلة الآخرين.
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 in compliance with UAE Federal Decree‑Law No. 41 of 2024. 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.
لا يشترط الصيام، ولكن يجب إكمال جلسة استشارة وراثية قبل الفحص لرسم شجرة عائلية لثلاثة أجيال، ثم يسحب الدم بواسطة فني معتمد من هيئة الصحة بدبي.
UAE Regulatory Compliance & Data Privacy
This genetic test is executed in full compliance with UAE Federal Decree‑Law No. 41 of 2024 on the Regulation of Genetic Testing (Article 87), ensuring informed consent, confidentiality, and non‑discrimination. In accordance with the UAE CDS Law 2026, genetic testing of minors is strictly prohibited without judicial or guardian authorization, and mandatory pre‑ and post‑ genetic counseling is enforced. All personal health data is protected under the UAE Personal Data Protection Law (PDPL). Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and undergoes regular external quality assessments by DHA/MOHAP.
For appointments, insurance verification, or genetic counseling scheduling:
WhatsApp +971 54 548 8731DHA Licensed Facility 9834453 | Turnaround Time: 3 to 4 Weeks
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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