Test Price
2,800 AED✅ Home Collection Available
PIK3R2 Gene Sequencing for Megalencephaly‑Polymicrogyria‑Polydactyly‑Hydrocephalus Syndrome (MPPH) in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
This advanced genetic test provides comprehensive analysis of the PIK3R2 gene using Next‑Generation Sequencing (NGS) with diagnostic accuracy of 99.9%, in compliance with ISO 15189 accreditation, with premium home collection logistics and post‑test clinical guidance.
- √ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189‑accredited Next‑Generation Sequencing.
- √ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- √ Clinical Guidance: Complimentary 15‑minute Telephonic Post‑Test Genetic Counselling with a DHA‑licensed consultant.
- √ Insurance: Direct Billing Verification – send your Emirates ID & policy copy to WhatsApp +971 54 548 8731.
Test Overview & Methodology
Megalencephaly‑polymicrogyria‑polydactyly‑hydrocephalus syndrome (MPPH) is a rare, autosomal dominant neurodevelopmental disorder caused by gain‑of‑function mutations in the PIK3R2 gene. This test utilises whole‑gene Next‑Generation Sequencing (NGS) to interrogate the entire coding region, identifying pathogenic single‑nucleotide variants, small insertions/deletions, and copy‑number changes.
| Feature | Our Test (OrderHere.ae) | Closest Alternative |
|---|---|---|
| Methodology | Whole‑gene NGS (PIK3R2) + copy‑number analysis | Targeted Sanger sequencing (exonic hot‑spots only) |
| Diagnostic Yield | >99.9% sensitivity for point mutations & CNVs | ~75% – misses large deletions/duplications |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Pre/Post‑test Counselling | Included (certified genetic counsellor) | Often separate, additional cost |
| Price (AED) | 2,800 | 3,500 – 5,000 |
Physician Insight & Safety Protocols
“Every MPPH diagnosis carries profound implications for neurodevelopmental prognosis and family planning. This NGS assay delivers the molecular clarity needed to differentiate from overlapping cortical malformation syndromes. Results must always be interpreted in conjunction with clinical and imaging findings. Do not discontinue prescribed medication without consulting your doctor.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Exclusion Criteria & Emergency Red Flags
Important Safety Information
- Exclusion: Allogeneic stem cell transplant or blood transfusion within 2 weeks (risk of mixed chimerism invalidating germline analysis). Minors: Legal guardian consent is mandatory as per Federal Decree‑Law No. 4 of 2016 on Medical Liability; samples accepted only with documented guardian identity.
- Exclusion: Inability to provide informed consent or pedigree information as required by UAE Medical Liability Law and Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Emergency Red Flags – Seek Immediate Medical Care: New‑onset seizures, plateau of head growth exceeding centile curves, vomiting, lethargy, or sunsetting eyes regardless of test scheduling.
Patient FAQ & Clinical Guidance
1. What does the PIK3R2 gene test for MPPH syndrome actually detect?
This advanced NGS assay identifies pathogenic mutations across the full PIK3R2 coding sequence, confirming the molecular diagnosis of megalencephaly‑polymicrogyria‑polydactyly‑hydrocephalus syndrome with >99.9% analytical sensitivity.
2. How long will it take to receive results, and will someone help interpret them?
Results are ready in 3–4 weeks; every report includes a mandatory post‑test telephone consultation with our DHA‑licensed genetic counsellor who explains the clinical implications and next steps.
3. Is the test covered by insurance and how do you handle patient data under UAE law?
Direct billing is verified via WhatsApp; all genetic data is processed under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), stored in an ISO 27001‑certified domestic server, and never shared without explicit consent as per UAE Medical Liability Law.
4. What sample type is required for this test?
A standard peripheral whole blood sample (3–5 mL in EDTA tube) is required. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
All genetic testing and data handling at DNA Labs UAE strictly comply with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring consent, data minimization, and purpose limitation.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing secure electronic health records.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – regulating patient consent and clinical responsibility.
Your genetic data remains confidential, stored on ISO 27001‑certified servers within the UAE, and is never shared with third parties without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | PIK3R2 Gene Sequencing (Megalencephaly‑Polymicrogyria‑Polydactyly‑Hydrocephalus Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) – VIP Mobile Phlebotomy & Cold‑Chain Home Collection Available |
| Methodology Used | Whole‑gene Next‑Generation Sequencing (NGS) with copy‑number variant analysis |
| ICD-10-CM Code | Q04.8 (Other specified congenital malformations of brain) – also Q07.8? We use Q04.8 |
| LOINC Code | 95199-8 (Genetic analysis of a gene panel for nervous system disorder) |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians