Test Price
2,800 AED✅ Home Collection Available
PNKP Gene Sequencing (Early Infantile Epileptic Encephalopathy Type 10) in UAE | 2800 AED | DHA Licensed Diagnostic Test
Executive Summary & Core Metrics
Executive Summary: This definitive genetic test sequences the PNKP gene to diagnose Early Infantile Epileptic Encephalopathy Type 10 (EIEE10) with 99.9% diagnostic sensitivity, processed under ISO 9001:2015 accredited protocols at DNA Labs UAE. Our service includes VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM), post-test telephonic clinical guidance from a Consultant Medical Genetics, and direct insurance billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PNKP gene test identifies pathogenic variants causing early infantile epileptic encephalopathy type 10, a severe neurodevelopmental condition marked by intractable seizures and progressive microcephaly. This NGS-based assay provides a definitive molecular diagnosis enabling precise genetic counselling and early therapeutic intervention.
| Feature | Our Test: PNKP NGS | Alternative: PNKP Sanger Sequencing |
|---|---|---|
| Method | Next-Generation Sequencing (whole gene, SNVs/indels) | Sanger sequencing (exon-by-exon) |
| Sensitivity | >99.9% for coding region variants | ~97% (misses large deletions) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Price (AED) | 2,800 | Variable, often >3,500 |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that PNKP sequencing results must be interpreted within the full clinical context. A negative finding does not exclude other causes of epileptic encephalopathy; correlation with EEG, neuroimaging, and metabolic workup remains essential for comprehensive patient management.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Do not discontinue prescribed anti-epileptic medication without consulting your treating physician. Abrupt cessation may trigger rebound seizures or status epilepticus. Always seek specialist guidance before making any changes to your medication regimen.
Exclusion Criteria & Emergency Red Flags
- Patients with active febrile illness or unmanaged sepsis should defer non-urgent genetic testing until clinically stable.
- Home collection is not suitable if the child is in status epilepticus; seek immediate emergency care by calling 998.
- Individuals on high-dose anticoagulants require physician clearance before blood draw to minimise bleeding risk.
- Emergency Red Flags: Prolonged seizure lasting more than 5 minutes, loss of consciousness, or respiratory distress — call 998 immediately.
Patient FAQ & Clinical Guidance
1. What does the PNKP gene test detect and how is it different from routine epilepsy panels?
The PNKP gene test specifically identifies mutations in the PNKP gene causing early infantile epileptic encephalopathy type 10, providing a definitive molecular diagnosis that routine epilepsy panels often miss. This NGS-based assay covers all coding exons with 99.9% sensitivity, enabling precise genetic counselling and targeted management strategies.
2. Is a doctor's referral mandatory for this genetic test in the UAE?
A valid DHA-licensed clinician's referral is mandatory for all genetic testing in compliance with UAE healthcare regulations. Our team verifies the referral and facilitates a pre-test genetic counselling session to map the family pedigree and discuss implications of potential findings.
3. What sample types are accepted and can collection be performed at home?
We accept whole blood, extracted DNA, or a single drop of blood on an FTA card. Collection is performed via our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service, available daily from 8 AM to 11 PM. Samples are transported under strict cold-chain conditions to our accredited laboratory for analysis.
4. How long does it take to receive results and how are they delivered?
The turnaround time is 3 to 4 weeks from sample receipt. Results are delivered electronically via secure portal and reviewed during a post-test telephonic consultation with our Consultant Medical Genetics to ensure comprehensive understanding and appropriate follow-up.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed 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. All patient data is encrypted, access-controlled, and processed under ISO 9001:2015 certified protocols (Cert: INT/EGQ/2509DA/3139). Clinical safety and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | PNKP Gene Sequencing (Early Infantile Epileptic Encephalopathy Type 10) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding region analysis |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 83592-4 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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