Test Price
2,800 AED✅ Home Collection Available
PGAP2 Gene NGS Test for Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3) – 2800 AED – Dubai, UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing (Cert: INT/EGQ/2509DA/3139)
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM – 11 PM)
- Clinical Guidance: Telephonic post-test clinical guidance by DHA-licensed specialists for result interpretation
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731
Test Overview & Methodology
This single-gene NGS test screens for pathogenic variants in the PGAP2 gene, confirming the diagnosis of Hyperphosphatasia with Mental Retardation Syndrome type 3 (HPMRS3), an autosomal recessive disorder characterized by intellectual disability, dysmorphic features, elevated alkaline phosphatase, and seizures. In the UAE, results are available in 3–4 weeks using whole blood, extracted DNA, or a dried blood spot on an FTA card.
| Parameter | Our PGAP2 NGS Test | Closest Alternative (Sanger Sequencing of PGAP2) |
|---|---|---|
| Variant Resolution | Full gene coding region ±10 bp, CNV detection | Limited to targeted amplicons, may miss large deletions |
| Turnaround Time | 3–4 weeks | 4–6 weeks (often longer for custom primer design) |
| Clinical Reporting | ACMG 2024 classification with therapeutic recommendations | Generally only variant description without functional prediction |
| UAE Regulatory Alignment | DHA-MOHAP nomenclature, ISO 9001:2015, PDPL-compliant | Often not localized for UAE genetic policies |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“Families should view this test as one piece of a holistic clinical picture—genetic results must always be correlated with dysmorphology findings, biochemical markers such as hyperphosphatasia, and neurodevelopmental assessments. A definitive molecular diagnosis can open doors to early intervention, but it does not replace compassionate multidisciplinary care.”
Advisory: Medication and Treatment Continuity
⚠️ Do not discontinue any prescribed medication, especially anti-epileptics, without consulting your treating physician. Genetic results may guide therapy but never override acute management.
Exclusion Criteria & Emergency Red Flags
- Not suitable for: Asymptomatic individuals without a clinical suspicion of HPMRS3; prenatal screening without prior genetic counseling and parental mutation confirmation.
- Do not submit sample if: Patient is acutely ill, febrile, or has received blood transfusion within 4 weeks – these may interfere with DNA integrity and variant calling.
- Seek immediate emergency care if: New-onset seizure, sudden loss of developmental milestones, or signs of severely elevated intracranial pressure (vomiting, lethargy, bulging fontanelle in infants) develop while awaiting results.
Patient FAQ & Clinical Guidance
1. What does a PGAP2 NGS test detect and why is it needed in the UAE?
Our test sequences the entire PGAP2 gene to identify biallelic pathogenic variants causing Hyperphosphatasia with Mental Retardation Syndrome type 3. This confirmation enables accurate genetic counseling, recurrence risk assessment, and access to UAE-based early intervention programs tailored for inborn errors of glycosylation.
2. Can I use a dried blood spot card for my child’s test?
Yes, you may submit a single drop of blood on an FTA card, provided the sample is collected using our ISO-validated cold-chain protocol. This minimally invasive method is ideal for neonates and young infants, eliminating the need for venipuncture while delivering the same 99.9% analytical sensitivity.
3. Will my insurance cover this genetic test and the home collection service?
Most UAE insurers cover medically indicated single-gene sequencing for syndromic intellectual disability when pre-authorized. Our team directly verifies your coverage and handles all billing paperwork; simply message us on WhatsApp at +971 54 548 8731 to initiate a seamless, cashless experience.
UAE Regulatory & Data Privacy Adherence
All genetic test results and personal data are handled 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PGAP2 Gene NGS Test for Hyperphosphatasia with Mental Retardation Syndrome Type 3 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – whole gene coding region ±10 bp, CNV detection |
| ICD-10-CM Code | Q87.8 – Other specified congenital malformation syndromes |
| LOINC Code | 82125-8 – Gene mutations identified in Blood or Tissue by Sequencing |
| DHA Facility License & Laboratory Address | DHA License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians