PGAP3 Gene Analysis – Hyperphosphatasia with Intellectual Disability Syndrome Type 4 (HPMRS4) Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS sequencing. Secure, VIP home-based sample collection (8 am–11 pm) with cold‑chain transport. Tele‑guidance by DHA‑licensed clinicians post‑result. Direct insurance billing verification through WhatsApp at +971 54 548 8731.

2,800 AED
TAT: 3–4 Weeks
ISO 9001:2015 Certified

Test Overview & Methodology

The PGAP3 gene encodes a protein essential for glycosylphosphatidylinositol (GPI) anchor synthesis. Pathogenic variants cause Hyperphosphatasia with Intellectual Disability Syndrome Type 4 (HPMRS4), also known as Mabry syndrome, characterized by developmental delay, facial dysmorphism, seizures, and elevated serum alkaline phosphatase. Our NGS-based test sequences all coding exons and splice junctions of PGAP3 to detect single nucleotide variants, small insertions/deletions, and copy number changes, delivering a definitive molecular diagnosis for affected children and guiding family planning.

Feature	Our Test (PGAP3 NGS)	Closest Alternative
Technology	Next-Generation Sequencing (Illumina® platform) with full bioinformatic pipeline	Single-gene Sanger sequencing (limited to known hotspots)
Coverage	All coding exons, ±20 bp intron borders, CNV detection	Targeted mutation analysis only; misses novel variants
Turnaround	3–4 weeks	4–6 weeks
Clinical Interpretation	DHA-aligned report with ACMG classification	Often lacks geneticist review

Physician Insight & Safety Protocols

“A PGAP3 molecular diagnosis provides families with answers, ends the diagnostic odyssey, and enables precise recurrence risk counselling. However, a negative result does not rule out other GPI-anchor disorders; correlation with clinical and biochemical findings remains essential.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory: Medication Safety

Do not discontinue or adjust any prescribed therapies (antiepileptics, alkaline phosphatase modulators, etc.) based on this test result alone. Always consult your managing paediatrician or geneticist.

Exclusion Criteria & Emergency Red Flags

This test is not indicated for acute life‑threatening events; if the child is in respiratory distress, status epilepticus, or unresponsive, call 998 immediately.
Infants under 1 month of age require clinical clearance for home blood draw.
Patients with severe coagulopathy or platelet disorders: venipuncture must be performed under specialist supervision.
Red‑flag laboratory findings (e.g., extreme hyperphosphatasemia >10× upper limit, metabolic crisis) warrant urgent hospital admission before genetic testing.
Do not submit a sample if the patient has had a blood transfusion within the last 4 weeks—it may interfere with DNA integrity.

Patient FAQ & Clinical Guidance

1. What is the purpose of the PGAP3 genetic test?

The test identifies disease‑causing variants in the PGAP3 gene to confirm a clinical diagnosis of Hyperphosphatasia with Intellectual Disability Syndrome Type 4, enabling targeted management and accurate family counselling.

2. How is the sample collected, and is home collection available?

A certified phlebotomist visits your home between 8 am and 11 pm to collect a small blood sample or an FTA card spot; the sample is transported in a temperature‑controlled chain to our ISO‑accredited lab.

3. Will my insurance cover this, and how quickly will I get results?

Most UAE insurers cover medically necessary genetic diagnostics; we verify your policy directly via WhatsApp (+971 54 548 8731) before the collection, and final report is ready in 3–4 weeks.

UAE Regulatory & Data Privacy Adherence

Analysis performed at DNA Labs UAE, DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
All procedures comply 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.
ISO 9001:2015 Quality Management System certified (Cert: INT/EGQ/2509DA/3139), ensuring validated NGS workflows and data security.

Clinical & Logistical Metadata

Test Name	PGAP3 Gene Analysis – Hyperphosphatasia with Intellectual Disability Syndrome Type 4 (HPMRS4) Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral blood or dried blood spot (FTA card)
Methodology Used	Next-Generation Sequencing (Illumina® platform) with full bioinformatic pipeline, covering all coding exons and ±20 bp intron borders
ICD-10-CM Code	Q87.8
LOINC Code	101179-2
DHA Facility License & Laboratory Address	DNA Labs UAE, DHA License 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE