Test Price
2,800 AED✅ Home Collection Available
GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين GNAO1 لاعتلال الدماغ الصرعي الطفولي المبكر النوع 17 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Premium Logistics
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
- ✓ Premium Logistics: Paid hospital-grade home collection with ISO-certified cold-chain transport and VIP mobile phlebotomy (8 AM–11 PM daily).
- ✓ Clinical Guidance: Complimentary telephonic post-test clinical interpretation session with our DHA-licensed medical team.
- ✓ Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
ملخص تنفيذي: الفحص الجيني لجين GNAO1 يكشف عن الطفرات المسببة لاعتلال الدماغ الصرعي الطفولي المبكر النوع 17 بدقة تشخيصية تصل إلى 99.9% من خلال مختبر معتمد وفق معايير ISO 9001:2015، مع خدمة سحب منزلي معقمة ونقل عينات بسلسلة تبريد دولية، وتقديم استشارة إكلينيكية هاتفية بعد النتيجة.
What Is the GNAO1 Gene Test and Why Is It Critical?
This next-generation sequencing test screens the entire coding region of the GNAO1 gene to identify pathogenic variants responsible for early infantile epileptic encephalopathy type 17 (EIEE17), a severe neurodevelopmental disorder. It provides a definitive molecular diagnosis, enabling targeted therapeutic interventions and accurate genetic counselling for families in the UAE.
| Feature | Our GNAO1 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Target Precision | Single‑gene full coverage with deep read depth | Genome‑wide, may miss low‑level mosaicism in the gene |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Clinical Report | Focused, actionable ACMG‑classified variants | Incidental findings requiring time‑consuming variant sorting |
| Cost | 2800 AED | 3500–4800 AED (often with insurance pre‑authorisation delays) |
Physician Insight & Safety Protocol
“As a DHA‑licensed pathologist, I understand the emotional weight a possible EIEE17 diagnosis carries. This test offers families a clear molecular answer, but it must always be interpreted in the context of the full clinical picture — never in isolation. A normal result does not exclude all epilepsy syndromes, so we remain committed to multidisciplinary follow‑up.” — Dr. Prabhakar Reddy, DHA License 61713011
⚠ Medication Advisory: Do not discontinue any prescribed antiepileptic or neurological medication without explicit instruction from your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Untreated bleeding disorders or severe thrombocytopenia (relative contraindication for venipuncture; discuss with our phlebotomy team before booking).
- Exclusion: Acute febrile illness on the day of collection; postpone until afebrile for at least 24 hours.
- Exclusion: Known heparin therapy — an alternative collection tube will be arranged; inform our team in advance.
- Red Flag: If your child develops prolonged seizures (>5 minutes), respiratory distress, or loss of consciousness after sample collection, seek nearest emergency care immediately and inform the ordering physician.
Frequently Asked Questions — GNAO1 Genetic Testing
1. What is the purpose of the GNAO1 gene test for early infantile epileptic encephalopathy?
Direct Answer: It detects pathogenic GNAO1 mutations that cause EIEE17, enabling precise diagnosis, treatment planning, and family genetic counselling.
The test sequences the entire GNAO1 gene using next-generation sequencing technology. Identifying a disease‑causing variant confirms EIEE17, which helps neurologists tailor antiepileptic therapy and avoid unnecessary diagnostic odysseys. A confirmed diagnosis also allows parents to understand recurrence risks for future pregnancies and access targeted clinical trials if available.
الغرض من الفحص: يحدد الطفرات المرضية في جين GNAO1 المسببة لاعتلال الدماغ الصرعي الطفولي المبكر النوع 17، مما يمكن من التشخيص الدقيق وخطة علاجية موجهة.
2. How is the genetic sample collected, and is it painful for my child?
Direct Answer: A single blood draw or a tiny finger‑prick drop on an FTA card is collected by our paediatric‑trained phlebotomist, minimally uncomfortable and fast.
For children and infants, we prioritise the finger‑prick FTA card method, which requires only one drop of blood and causes brief, mild discomfort. Alternatively, a standard venous blood sample can be drawn. All home‑collection staff are experienced in calming techniques and use paediatric‑appropriate equipment. The sample is immediately placed in an ISO‑certified cold‑chain container to maintain stability.
طريقة سحب العينة: يتم سحب قطرة دم واحدة من طرف الإصبع على بطاقة FTA، أو أخذ عينة وريدية بسيطة، بواسطة اختصاصي سحب مدرب على التعامل مع الأطفال.
3. When will I receive the EIEE17 results, and what do they include?
Direct Answer: Your full clinical report is ready within 3 to 4 weeks, detailing identified variants, ACMG classification, and clinical interpretation.
Once the NGS sequencing and bioinformatics analysis are complete, our DHA‑approved geneticists compile a comprehensive report. It includes the detected mutation (if any), its pathogenicity rating (pathogenic, likely pathogenic, or variant of uncertain significance), and a correlation to your child’s clinical presentation. We also provide a telephonic consultation to walk you through the results and outline the next steps with your neurologist.
مدة النتائج: يصدر التقرير السريري خلال 3 إلى 4 أسابيع، ويشمل الطفرة المحددة وتصنيفها حسب معايير ACMG وتوصيات الخبراء.
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