Test Price
2,800 AED✅ Home Collection Available
CHD2 Gene Epileptic Encephalopathy, Childhood‑Onset Genetic Test in UAE
Executive Summary & Core Metrics
DHA TRUSTAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
PREMIUMPremium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
CLINICALClinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by DHA‑licensed specialists.
INSURANCEInsurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CHD2 gene test identifies pathogenic variants causing childhood‑onset epileptic encephalopathy, a severe neurological disorder marked by early‑onset seizures, developmental delay, and often drug‑resistant epilepsy. This NGS‑based analysis provides comprehensive coverage of the entire coding region and splice sites, enabling a definitive molecular diagnosis and personalised treatment strategies.
| Features | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) with Sanger confirmation | Single‑gene Sanger sequencing (full gene) |
| Coverage | Entire coding region + 20 bp exon‑intron boundaries | Coding region (may miss deep intronic variants) |
| Analytical Sensitivity | 99.9% | ~95% (depending on GC‑rich regions) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Accreditation | ISO 9001:2015, DHA‑licensed facility | May lack UAE‑specific accreditation |
Physician Insight & Safety Protocols
“A positive CHD2 result must be interpreted alongside the child’s electroclinical phenotype; I always correlate genetic findings with EEG and video‑telemetry data. As a clinician who has walked this path with countless families, I understand the anxiety a diagnosis brings—we ensure every report is accompanied by a dedicated counselling session. Never stop antiepileptic drugs abruptly; all changes should be supervised by your treating physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
- Children in status epilepticus or with uncontrolled, life‑threatening seizures require immediate hospitalisation.
- Patients with known coagulopathy or severe bleeding disorders contraindicating venipuncture.
- Individuals unable to provide the minimum sample volume (1 mL of whole blood).
- RED FLAG: If the child develops respiratory distress, prolonged unconsciousness, or signs of raised intracranial pressure during the wait for results, seek emergency care.
Patient FAQ & Clinical Guidance
1. What is the CHD2 gene and why is it tested for epileptic encephalopathy?
The CHD2 gene encodes a chromatin remodelling protein essential for neuronal development; pathogenic variants cause early‑onset drug‑resistant epilepsy and epileptic encephalopathy. Testing establishes a definitive molecular diagnosis and guides targeted therapy.
2. How is the test performed and what sample is required?
The test requires a blood sample (whole blood, extracted DNA, or a drop on an FTA card). A certified phlebotomist from our VIP Mobile Phlebotomy service can collect the sample at your home between 8 AM and 11 PM daily, ensuring temperature‑controlled cold‑chain transport to our ISO‑certified laboratory.
3. How long does it take to receive results and how accurate are they?
Results are typically available in 3–4 weeks with 99.9% analytical sensitivity and specificity, confirmed by orthogonal Sanger sequencing. A detailed report includes clinical interpretation and genetic counselling recommendations.
UAE Regulatory & Data Privacy Adherence
This service fully complies 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 and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is handled with strict confidentiality and stored securely within accredited UAE facilities.
Clinical & Logistical Metadata
| Test Name | CHD2 Gene (Epileptic Encephalopathy, Childhood‑Onset) – Next‑Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood (peripheral), extracted DNA, or FTA card spot. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available. |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation; full coding region + 20 bp splice site analysis |
| ICD-10-CM Code | G40.4 (Other generalized epilepsy and epileptic syndromes), G40.9 (Epilepsy, unspecified), G31.9 (Degenerative disease of nervous system, unspecified) |
| LOINC Code | 82324-3 (CHD2 gene mutation analysis in blood or tissue by NGS) |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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