Test Price
2,800 AED✅ Home Collection Available
GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Advanced NGS-based genetic test for diagnosing early infantile epileptic encephalopathy type 40 caused by GUF1 gene variants, with 99.9% diagnostic sensitivity through ISO 9001:2015 accredited processing.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced next-generation sequencing test screens for pathogenic variants in the GUF1 gene, which encodes a mitochondrial translation factor essential for brain energy metabolism. Pathogenic variants disrupt mitochondrial function, leading to severe early-onset epilepsy, drug-resistant seizures, and developmental delay. Identifying the mutation confirms the diagnosis and guides personalized treatment and genetic counselling.
| Feature | GUF1 NGS Test | Standard Single-Gene Sequencing |
|---|---|---|
| Analytical Sensitivity | ≥99.9% (full coding region, deep coverage) | ~95% (limited exon coverage) |
| Methodology | Next-Generation Sequencing (NGS) with bioinformatic variant classification | Sanger sequencing (targeted, slower) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
"Early infantile epileptic encephalopathy places a heavy burden on families. This GUF1 genetic test provides essential molecular clarity for diagnosis and management. However, results must always be correlated with EEG findings, neuroimaging, and clinical presentation. Never adjust anticonvulsant therapy without direct medical supervision."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Advisory Notice
Medication Caution
Do not discontinue, alter, or adjust prescribed anticonvulsant medications without explicit instruction from the treating physician. Abrupt changes may precipitate seizure recurrence or status epilepticus.
Exclusion Criteria & Emergency Red Flags
Clinical Exclusion Criteria
- Exclusion: Not indicated for asymptomatic individuals without clinical suspicion or family history of GUF1-related encephalopathy. Testing in minors requires parental consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: If the patient develops status epilepticus (seizure lasting >5 minutes or recurring without full recovery), respiratory distress, or prolonged apnea, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the GUF1 gene and why is it important in infantile epileptic encephalopathy?
The GUF1 gene encodes a mitochondrial translation factor essential for brain energy metabolism; pathogenic variants disrupt mitochondrial function, causing severe early-onset epilepsy. In early infantile epileptic encephalopathy type 40, this genetic defect leads to drug-resistant seizures and developmental delay. Identifying the mutation confirms the diagnosis and guides personalized treatment and genetic counselling.
2. How is the test performed and what does the process involve?
A simple blood draw or DNA sample is collected, then analyzed using high-coverage next-generation sequencing to detect GUF1 variants. After a mandatory genetic counselling session to document family history, our mobile phlebotomy team collects the sample at your home. The DNA is extracted, sequenced, and interpreted by certified molecular geneticists. Results are delivered within 3–4 weeks with a comprehensive clinical report.
3. What do the results mean and how will they affect my child's management?
A positive result confirms a GUF1-related epileptic encephalopathy, enabling targeted therapy selection and accurate genetic counselling for future pregnancies. A negative result does not exclude other genetic epilepsies, and further testing may be required. All results are interpreted by a multidisciplinary team, and a post-test teleconsultation with Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403) is included to discuss implications and next steps.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All genetic data is handled 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.
Clinical Safety & Consent: Patient safety, informed consent, and medical liability procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), Saliva, or Buccal swab; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) with bioinformatic variant classification |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 81307-1 |
| DHA Facility License & Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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