Test Price
2,800 AED✅ Home Collection Available
TWNK (C10orf2) Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين TWNK للضمور العيني التقدمي الخارجي مع الحذف الميتوكوندري من النوع 3 (السائد جسدياً) عبر تقنية NGS في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary (الملخص التنفيذي)
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS platform.
- Premium Cold-Chain Home Collection by DHA-licensed nurses (8 AM – 11 PM).
- Telephonic Post-Test Clinical Guidance by DHA-certified specialists.
- Direct Insurance Billing Verification via WhatsApp +971 54 548 8731.
يضمن هذا التحليل التشخيصي الدقيق بنسبة 99.9% باستخدام أحدث تقنيات التسلسل الجيني وفقًا لمعيار ISO 9001:2015. يتم تقديم خدمة جمع العينة منزليًا عبر فريق تمريض معتمد وسلسلة تبريد آمنة، مع استشارة هاتفية بعد النتائج وتغطية تأمينية مباشرة.
What Is the TWNK Gene PEOA3 NGS Test?
This advanced genomic test sequences the entire TWNK gene to diagnose autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions type 3 (PEOA3). يستخدم هذا الاختبار تقنية التسلسل الجيني المتقدم لتأكيد الطفرات الجينية المسببة للمرض. The test utilizes next-generation sequencing (NGS) with copy number variant analysis, ensuring comprehensive variant detection.
| Feature | Our TWNK NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Methodology | Targeted NGS + CNV detection | Broad exome analysis, may miss CNVs |
| Diagnostic Yield | >95% for TWNK mutations | ~70% for monogenic PEO |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Clinical Report | Focused interpretation by neurologist & geneticist | Broad findings, may require secondary analysis |
| Cost | 2,800 AED | 5,000–7,000 AED |
Physician Insight & Safety Protocol
"As a clinician, I understand the anxiety that accompanies genetic testing. This test is a critical step toward a precise diagnosis for families affected by mitochondrial eye muscle disorders. Please remember that a positive result confirms the genetic cause but does not define your entire health trajectory; we are here to support you through every step." — Dr. Prabhakar Reddy, DHA License No. 61713011, Laboratory Director.
⚠ Medication Warning:
Do not discontinue any prescribed medication without consulting your doctor. This test may influence your neurologist’s management plan but never replace clinical judgment.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Acute bleeding diathesis or current anticoagulant therapy (requires physician clearance).
- Exclusion: Minors under 18 must have parental consent per UAE CDS Law 2026.
- Exclusion: Pregnant individuals may require special handling; consult your obstetrician.
- Emergency: If after sample collection you develop sudden vision loss, severe muscle weakness affecting breathing, or chest pain, go to the nearest ER immediately.
Pre-Test Requirements:
- Provide detailed clinical history and family pedigree (genetic counselling session recommended before testing).
- Sample options: Whole blood (3–5 ml EDTA tube), extracted DNA, or one drop of blood on FTA card.
- No fasting or dietary restrictions.
- Bring all relevant neurological and ophthalmological reports.
Patient FAQs & Clinical Guidance
1. Who should consider this TWNK gene test?
This NGS test identifies TWNK mutations responsible for autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions. (يُوصى بهذا التحليل للأفراد الذين يعانون من ضعف العضلات العينية والجفن المتدلي ولديهم تاريخ عائلي للإصابة بالمرض.) Genetic counseling is mandatory prior to testing to understand inheritance patterns.
2. How accurate is the and what does a positive result mean?
Detection rate exceeds 95% for pathogenic TWNK variants, confirming the genetic diagnosis of PEOA3 with >99% analytical accuracy. (تصل دقة التحليل إلى أكثر من 95% للطفرات المسببة، مما يؤكد التشخيص الوراثي بدقة تحليلية تفوق 99%). A positive result establishes the genetic cause but does not predict disease severity; clinical follow-up remains essential.
3. How is the sample collected and is home collection available?
A DHA-licensed nurse performs a painless blood draw or FTA card collection at your home, with cold-chain transport. (يقوم ممرض معتمد من هيئة الصحة بدبي بسحب عينة الدم أو بصمة الدم على بطاقة FTA في منزلك مع نقل بارد آمن). Results are ready in 3–4 weeks, and you will receive a telephonic interpretation session.
UAE Regulatory Compliance: This service is conducted in accordance with Federal Decree-Law No. 41 of 2024 (Article 87), UAE PDPL (Federal Decree-Law No. 45 of 2021), and CDS Law 2026 for minors. Our facility is DHA-licensed (No. 9834453) and ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). All genetic data is stored and processed within UAE-secured servers.
Contact & Billing: WhatsApp +971 54 548 8731 for direct insurance billing verification and appointment scheduling (8 AM – 11 PM daily).
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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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