Also known as: GABRB1 NGS Test, EIEE45 Genetic Test
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3 to 4 weeks
GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GABRB1 NGS test detects pathogenic variants in the GABRB1 gene associated with early infantile epileptic encephalopathy type 45 (EIEE45), a severe neonatal neurodevelopmental disorder. Our Next-Generation Sequencing (NGS) platform ensures comprehensive coverage and variant classification, enabling definitive diagnosis and informed therapeutic decisions.
| Feature | Our Test โ GABRB1 NGS | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% analytical sensitivity for all coding exons | Lower detection of mosaic variants, ~95% sensitivity for targeted regions |
| Methodology | Next-Generation Sequencing (NGS), validated to ISO 15189 | Capillary electrophoresis-based Sanger sequencing |
| Speed | 3 to 4 weeks | 6 to 8 weeks |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics, I understand the distress families face when an infant presents with drug-resistant seizures. This genetic test can unlock the precise cause, guiding targeted anti-epileptic therapy and genetic counseling. However, a negative result does not rule out other epileptic encephalopathies, and clinical correlation remains essential.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Warning
Do not discontinue prescribed anti-seizure medication without consulting your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a blood sample, severe thrombocytopenia requiring special handling.
- ER Red Flags: If the patient experiences status epilepticus, apnea, profound hypotonia, or sudden neurological deterioration, seek immediate emergency care.
- Pre-test: A mandatory genetic counselling session must be completed to draw a three-generation pedigree and document informed consent.
Patient FAQ & Clinical Guidance
1. What is the purpose of the GABRB1 genetic test?
The GABRB1 gene test identifies disease-causing mutations responsible for early infantile epileptic encephalopathy type 45, providing a definitive molecular diagnosis. Once confirmed, clinicians can tailor anti-seizure medications and offer prognostic information. Genetic counselling helps families understand inheritance patterns.
2. How is the sample collected and is it painful?
The test requires a simple blood draw or a one-drop blood spot on an FTA card; our VIP phlebotomist uses paediatric-friendly techniques to minimise discomfort. For infants, a heel-prick or venous sample is obtained in a home setting under cold-chain transport.
3. How long does it take to receive results?
Results are typically available within 3 to 4 weeks; a post-telephonic consultation with a clinical geneticist is scheduled to explain the findings. Urgent preliminary reports can be issued for critical cases upon request.
UAE Regulatory & Data Privacy Adherence
Compliance & Legal Notice: This service adheres to UAE 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 and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood or FTA blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Whole Exome Sequencing for GABRB1 gene |
| ICD-10-CM Code | G40.4 (Other generalized epilepsy and epileptic syndromes) |
| LOINC Code | 21636-6 (Gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["Mandatory genetic counselling session required prior to testing", "Informed consent documentation required"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians