Test Price
2,800 AED✅ Home Collection Available
PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 (Mabry Syndrome) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic accuracy guaranteed: 99.9% sensitivity via ISO‑certified processing and expert variant interpretation.
- Premium logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM across the UAE.
- Post‑test clinical counselling: telephonic consultation with a consultant medical geneticist to explain results and guide next steps.
- Insurance verification: direct WhatsApp check at +971 54 548 8731.
Test Overview & Methodology
This genetic test sequences the entire coding region of the PIGV gene using next‑generation sequencing (NGS) to identify pathogenic variants responsible for hyperphosphatasia with mental retardation syndrome type 1 (Mabry syndrome), a rare autosomal recessive disorder characterised by elevated alkaline phosphatase and intellectual disability. The assay provides a definitive molecular diagnosis in children presenting with developmental delay, facial dysmorphism, and hyperphosphatasia, enabling targeted clinical management and informed family planning.
| Feature | Our Test (PIGV Single‑Gene NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing – targeted gene | NGS of all exons (~20,000 genes) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Price | 2,800 AED | ~7,500 AED |
| Diagnostic Precision | >99% sensitivity for PIGV mutations | Broader but lower depth; may miss PIGV variants |
| Clinical Intent | Confirm Mabry syndrome in suspected cases | General diagnostic odyssey for undiagnosed disorders |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist registered with DHA (ID: 9294403), I understand the emotional and clinical weight of pursuing a rare disease diagnosis. This targeted PIGV NGS test delivers high‑fidelity molecular confirmation for Mabry syndrome. However, results must be integrated with the full clinical picture; a negative result does not exclude other genetic etiologies. I strongly recommend discussing all findings with a clinical geneticist or paediatric neurologist before making any management decisions."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics
Advisory Notice
Do not discontinue or modify any prescribed medication, including antiepileptics, nutritional supplements, or growth hormone therapy, without consulting your physician. This test is for diagnostic confirmation only and does not replace ongoing clinical care.
Exclusion Criteria & Emergency Red Flags
- This test is indicated only for individuals with clinical suspicion of Mabry syndrome (e.g., developmental delay, hyperphosphatasia) or a confirmed family history. It is not intended as a general screening tool.
- If the patient experiences seizures, respiratory distress, or severe metabolic crisis, seek immediate emergency medical attention.
- Consult a genetic counsellor to understand the implications before testing minors, in full compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability and UAE personal data protection laws.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PIGV genetic test?
The test detects pathogenic variants in the PIGV gene that cause Mabry syndrome, a recessive disorder featuring intellectual disability and persistently elevated alkaline phosphatase. It provides a definitive molecular diagnosis for classic hyperphosphatasia‑mental retardation syndrome type 1, guiding clinical management, surveillance, and family planning.
2. How long does it take to get results?
The turnaround time is 3–4 weeks from sample receipt. This duration accounts for comprehensive sequencing, bioinformatic analysis, and variant interpretation by our clinical geneticists. Once completed, results are securely uploaded to your patient portal and a telephonic consultation is scheduled to review the findings.
3. Is home blood collection available?
Yes, we offer VIP mobile phlebotomy with temperature‑controlled cold‑chain transport, available daily from 8 AM to 11 PM across all emirates. Our ISO‑certified nursing team ensures sample integrity while providing a comfortable, hospital‑grade experience at your home.
4. Can the test be performed on stored DNA or FTA cards?
Yes, the laboratory accepts peripheral whole blood, FTA cards, and extracted DNA samples. Please contact our logistics team to arrange secure courier delivery if you already have a DNA specimen.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
This genetic testing service operates in strict compliance with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic and health data are processed lawfully and securely.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the safe electronic handling of medical records.
- ISO 9001:2015 certification (INT/EGQ/2509DA/3139) for quality management.
- DHA Facility License No. 1143 – operations audited and approved by the Dubai Health Authority.
All results are transmitted via encrypted channels and access is restricted to authorised healthcare professionals and the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 (Mabry Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, FTA card, or extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – targeted single‑gene analysis |
| ICD‑10‑CM Code | Q87.8, E83.39, Z15.89 |
| LOINC Code | 81248-2 |
| 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