Test Price
2,800 AEDโ Home Collection Available
PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 (HPMRS2) Genetic Test โ 2,800 AED
Executive Summary & Core Metrics
Executive Clinical Summary & Trust Guarantee:
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing, compliant 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.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic counselling with a DHA-licensed medical geneticist; direct insurance billing verification via WhatsApp.
WhatsApp & Phone: +971 54 548 8731
Test Overview & Methodology
This Next-Generation Sequencing test deciphers the entire PIGO gene to confirm Hyperphosphatasia with Mental Retardation Syndrome Type 2 (Mabry syndrome).
| Feature | Our Test (UAE Gold Standard) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Full PIGO gene coverage) โ LC-MS/MS validated | Targeted PCR panel (limited exons) |
| Diagnostic Precision | 99.9% sensitivity & specificity | ~90% (misses deep intronic variants) |
| Turnaround | 3 โ 4 weeks | 4 โ 6 weeks |
| Sample Flexibility | Whole blood, extracted DNA, FTA card blood spot | Whole blood only |
| Regulatory Status | DHA/MOHAP approved, ISO 9001:2015 | No specific UAE certification |
Physician Insight & Safety Protocols
โEvery PIGO result must be integrated with the patientโs neurological, craniofacial, and biochemical profile for accurate interpretation. The referring paediatrician or clinical geneticist remains essential for therapeutic decisions. As a consultant medical geneticist, I emphasize that this test provides definitive diagnosis and supports carrier testing within families.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
โ ๏ธ Medication Advisory: Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace current treatment but may guide future therapeutic decisions. All clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Red Flags
Contact emergency services if any of the following are present:
- Inability to provide informed consent (guardian consent mandatory for minors per Federal Law No. 2 of 2019).
- Acute neurological deterioration, uncontrolled seizures, or sudden loss of developmental milestones โ seek urgent paediatric neurology care.
- Recent blood transfusion (within 2 weeks) may rarely interfere with DNA extraction; please inform the phlebotomist.
- Severe behavioural crisis or respiratory distress in the child โ sample collection should be postponed until stable.
Patient FAQ & Clinical Guidance
1. What does the PIGO gene test for HPMRS2 detect?
It identifies pathogenic mutations in the PIGO gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 2, enabling definitive diagnosis and family carrier testing. Genetic counselling is mandatory before sample submission.
2. How is the sample collected, and is home service available?
A DHA-certified phlebotomist collects 3 mL of blood in an EDTA tube (or a dried blood spot on an FTA card) at your home, with full cold-chain integrity. You may also provide previously extracted DNA. The service operates daily 8 AM to 11 PM.
3. What is the turnaround time, and how will I receive the results?
A clinically actionable laboratory report is issued in 3โ4 weeks, followed by a mandatory post-test genetic counselling session via secure teleconsultation. All data handling respects UAE PDPL and confidentiality laws.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance:
- DHA Facility License: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ applied for all patient data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing health data integrity.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ guiding clinical safety and consent.
- ISO 9001:2015 certified โ consistent with our commitment to quality management.
Clinical & Logistical Metadata
| Test Name | PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 (HPMRS2) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 โ 4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (Full PIGO gene coverage), LC-MS/MS validated |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians