Test Price
2,800 AED✅ Home Collection Available
PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 Genetic Test | 2800 AED | UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 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 NGS test analyzes the entire coding region of the PCDH19 gene to diagnose Early Infantile Epileptic Encephalopathy Type 9 (EIEE9), a severe neurodevelopmental disorder. The assay detects point mutations, small insertions, and deletions with high sensitivity, enabling precise molecular diagnosis and guiding targeted therapy.
| Feature | Our Test (PCDH19 NGS) | Closest Alternative (Single-Gene Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) of full coding region | Sanger sequencing of selected exons |
| Sensitivity | 99.9% for point mutations, indels | ~95% for targeted variants only |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks |
Physician Insight & Safety Protocols
"A positive PCDH19 mutation result confirms EIEE9 and can inform antiepileptic drug selection, particularly with the potential benefit of stiripentol and clobazam. However, seizure control and developmental outcomes require integrated multidisciplinary care. This test is a vital piece of the diagnostic puzzle but not a standalone directive. Always discuss results with a pediatric neurologist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA 9294403)
Medication Advisory & Safety Precautions
Do not discontinue or adjust prescribed antiepileptic medication without consulting your treating physician. Genetic test results should never replace clinical judgment or existing treatment protocols. Always maintain regular follow-up with your neurologist.
Exclusion Criteria & Emergency Indicators
Safety Exclusion Criteria:
- Patients with confirmed chromosomal rearrangements not related to PCDH19.
- Individuals unwilling to consent to genetic counseling.
Emergency Red Flags (Seek immediate medical attention):
- Prolonged or clustered seizures lasting >5 minutes (status epilepticus).
- Acute deterioration in consciousness or new neurological deficit.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PCDH19 gene test?
This test detects PCDH19 mutations linked to early infantile epileptic encephalopathy type 9 for definitive diagnosis. The results help differentiate EIEE9 from other epileptic encephalopathies, guiding antiepileptic drug selection and genetic counseling. Early confirmation can prevent unnecessary investigations and improve long-term management.
2. How is the sample collected and what is the turnaround time?
A standard peripheral blood sample is collected via our VIP Mobile Phlebotomy service at your home or at a designated collection center. We also accept extracted DNA or a blood spot on FTA card. Genetic results are ready in approximately 3–4 weeks. The final report is securely delivered via email and discussed in a telephonic clinical guidance session.
3. Is this test covered by health insurance in the UAE?
We offer direct billing verification and pre-authorization support to check your insurance coverage via WhatsApp. Contact us at +971 54 548 8731 for a quick benefits check; most major UAE insurers provide coverage for medically indicated genetic testing.
UAE Regulatory & Data Privacy Adherence
Your data is protected under 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. All genetic test results are handled with strict confidentiality, encrypted in transit and at rest, and accessed only by authorized clinical staff. For clinical safety and patient consent, we adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood (Whole Blood) – VIP Mobile Phlebotomy available |
| Methodology Used | Next-Generation Sequencing (NGS) of full coding region |
| ICD-10-CM Code | G40.89 |
| LOINC Code | 81307-0 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians