Test Price
2,800 AED✅ Home Collection Available
PI4KA Gene Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis Genetic Test in UAE | 2,800 AED | DHA Licensed
The PI4KA gene next-generation sequencing (NGS) test is a diagnostic assay for confirming perisylvian polymicrogyria syndrome with cerebellar hypoplasia and arthrogryposis. It delivers 99.9% diagnostic sensitivity through ISO-accredited processing at DNA Labs UAE. The service includes VIP mobile phlebotomy and temperature-controlled cold-chain home collection, pre-test genetic counseling, and post-test telephonic clinical guidance.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection (Available daily from 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.
Executive Summary and Core Metrics
Test: PI4KA Gene Sequencing – Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis
Price: 2,800 AED
Turnaround Time: 3–4 Weeks
Sample Type: Whole Blood (EDTA), Extracted DNA, or FTA Card
Methodology: High-Coverage NGS with Sanger Confirmation
DHA Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical Oversight: Consultant Medical Genetics – Lina Osama Zaki Quteineh | DHA Registration ID: 9294403
Test Overview and Methodology
The PI4KA NGS test screens the entire coding region and conserved splice sites for pathogenic variants associated with perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis. The assay employs high-coverage next-generation sequencing with orthogonal Sanger confirmation for all clinically actionable findings. This targeted single-gene approach provides the highest analytical sensitivity for PI4KA variants compared to broader genomic panels.
| Feature | Our PI4KA NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Methodology | High-coverage NGS and Sanger confirmation | Whole Exome Capture and NGS; may miss deep intronic variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price | 2,800 AED | 4,500 – 6,000 AED |
| Clinical Focus | Targeted single-gene analysis ensuring highest sensitivity for PI4KA | Broad genomic screen; variant interpretation for PI4KA may be less focused |
Physician Insight and Safety Protocols
"As a consultant in medical genetics, I understand that seeking a molecular diagnosis for a child with complex neurological symptoms can be an emotional journey. This targeted sequencing test provides definitive variant identification to guide clinical management, prognostic counseling, and family planning. However, all positive findings must be correlated with clinical presentation by a pediatric neurologist or clinical geneticist." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory and Medication Safety
Do not discontinue, adjust, or initiate any prescribed medications, including antiepileptic therapies, without direct consultation with your treating physician. This genetic test provides diagnostic information and does not replace acute medical management.
Patient Exclusion Criteria and Emergency Red Flags
- Exclusion: Inability to provide an adequate biological sample (whole blood, extracted DNA, or FTA card); absence of a clinical indication (not intended for asymptomatic general population screening).
- Emergency Red Flags: If the patient experiences acute neurological deterioration, uncontrolled seizures, or respiratory distress, seek immediate emergency care at the nearest hospital. This test does not replace acute medical management.
Patient FAQ and Clinical Guidance
1. What is the PI4KA gene polymicrogyria test and who should consider it?
This genetic test analyzes the PI4KA gene for pathogenic variants that cause a rare brain malformation syndrome characterized by perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis. It is indicated for symptomatic children with compatible neuroimaging findings and for family members requiring carrier or presymptomatic testing after appropriate genetic counseling.
2. How accurate is the NGS methodology for detecting PI4KA mutations?
The assay delivers 99.9% analytical sensitivity for single nucleotide variants, small insertions and deletions, and copy number changes within the PI4KA coding region and splice junctions. All clinically actionable variants are confirmed by Sanger sequencing, ensuring diagnostic-grade accuracy before reporting.
3. Will insurance cover the 2,800 AED cost and how soon can I get results?
Many UAE health insurance plans provide partial or full reimbursement for diagnostic genetic testing when medically indicated. Contact us via WhatsApp at +971 54 548 8731 for direct billing verification. The standard turnaround time is 3–4 weeks from sample receipt at the laboratory.
4. How should I prepare for the home collection visit?
No special preparation such as fasting is required for this genetic test. Stay well hydrated on the day of collection. A certified phlebotomist will visit your home between 8 AM and 11 PM, using temperature-controlled cold-chain transport to preserve sample integrity. Please have a valid Emirates ID or passport available for identification.
UAE Regulatory and Data Privacy Adherence
Regulatory Compliance Framework
DNA Labs UAE operates under rigorous legal and ethical standards. All genetic data is processed and stored in 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. Patient safety and clinical consent follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) for quality management, ensuring that every result meets international diagnostic benchmarks.
Your genetic information remains strictly confidential and is used solely for diagnostic reporting purposes. No data is shared with third parties without explicit written consent as required by UAE federal law.
Clinical and Logistical Metadata
| Test Name | PI4KA Gene Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | High-Coverage NGS with Sanger Confirmation |
| ICD-10-CM Code | Q04.8 |
| LOINC Code | 82293-6 |
| DHA Facility License and Laboratory Address | DHA License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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