Test Price
2,800 AED✅ Home Collection Available
EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33 Genetic Test – 2800 AED
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity for EEF1A2 mutations via ISO 9001:2015 Certified NGS. Results correlated with latest DHA/MOHAP reference databases.
ISO‑compliant cold‑chain transport, VIP mobile phlebotomy 8 AM–11 PM, and 2800 AED all‑inclusive pricing.
One-on-one post‑test tele‑genetic counseling and direct insurance billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test screens the entire coding region of the EEF1A2 gene, pinpointing pathogenic variants responsible for Early Infantile Epileptic Encephalopathy Type 33 (EIEE33), a severe neonatal/early-infant seizure disorder. Rapid molecular diagnosis enables avoidance of empirical therapies and directs precision management, including eligibility for emerging targeted treatments.
| Feature | Our EEF1A2 NGS Test | Closest Alternative (Sanger / Panel) |
|---|---|---|
| Precision | Full‑gene sequencing with 100× mean depth, detects SNVs, indels, CNVs | Targeted Sanger of selected exons only; limited CNV detection |
| Methodology | Next‑Generation Sequencing (NGS) – ISO 9001:2015 validated | Sanger Sequencing |
| Turnaround Time | 3–4 weeks with clinical report | 4–6 weeks (fragment‑based) |
Physician Insight & Safety Protocols
A Note from Dr. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA License: 9294403) — This NGS assay is a transformative diagnostic tool for infants with unexplained, treatment-resistant seizures. However, DNA findings must always be integrated with EEG, neuroimaging, and detailed clinical history to formulate a holistic care plan.
Advisory: Medication and Treatment Safety
Do not discontinue or modify prescribed antiepileptic medication without direct consultation with the treating neurologist. This genetic test provides diagnostic information but does not replace medical management. Always follow your physician's guidance for medication adjustments.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Known acquired structural brain injury (e.g., hypoxic‑ischemic encephalopathy from acute birth trauma) — alternative testing may be more appropriate.
- Exclusion: Genetic testing of asymptomatic minors without parental/legal guardian consent, as per Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE Personal Data Protection Law (PDPL).
- Seek Emergency Care Immediately If: Seizure lasts >5 minutes, infant stops breathing, or exhibits unresponsiveness after a convulsion.
Patient FAQ & Clinical Guidance
1. What is the EEF1A2 gene test, and how can it help my child with unexplained seizures?
This DNA test identifies mutations in the EEF1A2 gene causing early infantile epileptic encephalopathy type 33, guiding precise treatment and prognosis for affected infants. It can prevent invasive investigations and accelerate targeted therapies such as ketogenic diet or anti‑seizure medications suited to the genetic subtype.
2. How is the sample collected, and is home collection available in the UAE?
We offer hospital-grade home collection of a small blood sample or buccal swab by a certified phlebotomist, with cold-chain transport ensuring sample stability. Appointments are available 8 AM–11 PM across all emirates; minimal preparation — no fasting required.
3. How long do results take, and will I receive genetic counseling?
Results are delivered within 3-4 weeks, and you will receive a comprehensive post‑genetic counseling session to interpret findings and plan next steps. This includes a detailed family pedigree chart and guidance on recurrence risk for future pregnancies.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability
Laboratory certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143. For direct billing and support, contact WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | EEF1A2 Gene Sequencing – Early Infantile Epileptic Encephalopathy Type 33 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral blood (3–5 mL EDTA) or buccal swab; VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coding region plus intron‑exon boundaries, CNV detection |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 91847-8 |
| DHA Facility License & Laboratory Address | DNA Labs UAE, DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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