Test Price
2,800 AEDโ Home Collection Available
GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary: Uncompromised Genetic Precision
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited lab (Cert: INT/EGQ/2509DA/3139) utilizing advanced NGS technology.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complementary Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed clinical consultants.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. We coordinate with all major UAE insurers.
- Compliance: Strictly adheres to 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, and Federal Decree-Law No. 4 of 2016 on Medical Liability.
Test Overview & Methodology
This test screens the entire coding sequence of the GRIN2D gene for mutations causing Early Infantile Epileptic Encephalopathy Type 46 (EIEE46). The analysis is performed via Next Generation Sequencing (NGS) with bioinformatic filtering to detect single nucleotide variants, small indels, and copy number variations, delivering a definitive molecular diagnosis with 99.9% analytical sensitivity and 99.9% specificity.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | 99.9% Analytical Sensitivity | ~95% (limited to known mutations) |
| Methodology | Next Generation Sequencing (entire gene) | Sanger Sequencing (targeted exons) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Variant Detection | SNVs, Indels, CNVs | SNVs and small indels only |
Physician Insight & Safety Protocols
"As a DHA-licensed Consultant Medical Genetics, I emphasize that a positive GRIN2D test result must be correlated clinically alongside EEG, neuroimaging, and developmental assessments. A negative result does not exclude other genetic epilepsies, and patients should continue anti-epileptic drugs unless otherwise advised by their treating neurologist. Always consult a specialist for tailored management." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ ๏ธ Medication Advisory
Do not discontinue prescribed anti-epileptic medication without consulting your doctor. Abrupt cessation may provoke life-threatening status epilepticus. Always follow your treating neurologist's guidance.
Exclusion Criteria & ER Red Flags
This test is not suitable for individuals without a clinical diagnosis or family history of epileptic encephalopathy. Seek immediate emergency care if your child experiences prolonged seizures (>5 minutes), difficulty breathing, or loss of consciousness during the testing process or at any time. Sample collection will be rescheduled if the patient presents with acute febrile illness or uncontrolled seizures.
Patient FAQ & Clinical Guidance
1. What is the GRIN2D genetic test, and who should consider it?
The GRIN2D NGS test definitively diagnoses Early Infantile Epileptic Encephalopathy Type 46 by analyzing the geneโs full code, and is recommended for infants and children exhibiting drug-resistant seizures, developmental regression, and abnormal EEG patterns within the first months of life.
2. How is the sample collected, and what is the expected turnaround time?
Our team performs a painless home blood draw under cold-chain conditions using VIP Mobile Phlebotomy, or accepts extracted DNA or DNA FTA cards. Results are available within 3 to 4 weeks, with optional express processing for urgent cases.
3. Will my insurance cover this test, and how is my genetic data protected?
We directly verify coverage with all UAE insurers via WhatsApp at +971 54 548 8731. Your genetic data is strictly safeguarded under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019, and ISO 9001:2015 encryption protocols. Data is never shared without explicit consent.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply with the following UAE laws and regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring genetic data privacy and consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing health information systems.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ governing clinical testing safety and patient consent.
All genetic results are encrypted and accessible only to authorized healthcare professionals. No data is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or DNA FTA card |
| Methodology Used | Next Generation Sequencing (NGS) โ full gene analysis including SNVs, indels, CNVs |
| ICD-10-CM Code | G40.4 (Other generalized epilepsy and epileptic syndromes) |
| LOINC Code | 21646-2 (GRIN2D gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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