Test Price
2,800 AED✅ Home Collection Available
GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) Genetic Test – 2800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✓ 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.
This targeted next-generation sequencing (NGS) test scans the entire coding region of the GNAO1 gene to identify pathogenic variants causing early infantile epileptic encephalopathy type 17 (EIEE17), a severe neurodevelopmental disorder. A definitive molecular diagnosis enables precise therapeutic interventions and accurate genetic counselling for families in the UAE.
Test Overview & Methodology
The GNAO1 gene test uses next-generation sequencing to achieve full coverage of all coding exons and flanking intronic regions with deep read depth. This method ensures high sensitivity for mosaic and low-frequency variants that broader approaches may miss. The test is performed at DNA Labs UAE, a DHA-licensed facility with ISO 9001:2015 accreditation.
| 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 GNAO1 |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Clinical Report | Focused, actionable ACMG‑classified variants | Incidental findings requiring time‑consuming variant sorting |
| Cost | 2,800 AED | 3,500–4,800 AED (often with insurance pre‑authorisation delays) |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I understand the profound impact a diagnosis of EIEE17 can have on a family. This targeted analysis provides a definitive genetic answer, which is essential for guiding treatment and family planning. However, the result must always be integrated with the full clinical evaluation to ensure comprehensive care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Important: Do not discontinue any prescribed antiepileptic or neurological medication without explicit instruction from your treating physician. This genetic test is for diagnostic clarity only and does not replace ongoing medical management.
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.
Patient FAQ & Clinical Guidance
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.
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; the procedure is 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.
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.
UAE Regulatory & Data Privacy Adherence
This laboratory test is conducted in full compliance with 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. All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is licensed by the Dubai Health Authority (DHA) under facility license number 1143, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood or capillary blood (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 82317-9 |
| DHA Facility License & Address | License #1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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