How long does it take to get the results?

Results are typically available within 3–4 weeks from the date the sample is received at the laboratory.

What sample type is required for the test?

We accept whole blood collected in an EDTA tube or a dried blood spot collected on an FTA card. Home collection is available via VIP Mobile Phlebotomy.

Genetics → Single Gene Sequencing

Also known as: Hyperphosphatasia with Mental Retardation Syndrome Type 3 Genetic Test, PGAP2 Sequencing

Results: 3–4 weeks Sample: Whole blood (EDTA) or Dried Blood Spot (FTA card)

Test Price

2,800 AED

✅ Home Collection Available

📋 Results in 3–4 weeks

PGAP2 Gene NGS Test for Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3) – 2800 AED – Dubai, UAE

Q: What does the PGAP2 NGS test detect?

This test sequences the entire PGAP2 gene to identify pathogenic variants causing Hyperphosphatasia with Mental Retardation Syndrome type 3 (HPMRS3). It detects single nucleotide variants, small insertions/deletions, and copy number variations.

Q: Can I use a dried blood spot card for my child’s test?

Yes, a single drop of blood on an FTA card is acceptable. The sample must be collected using our ISO-validated cold-chain protocol to ensure sample integrity.

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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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.

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Available in Arabic, English, Hindi & Urdu

Preparation Required

["No specific fasting required.", "Inform lab of any recent blood transfusions (within 4 weeks)."]

Medically Reviewed by Dr. Lina Osama Zaki Quteineh

All content reviewed by qualified professionals for accuracy.

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ISMS 27001:2022

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ISO Accredited

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HIPAA

All reports reviewed by DHA-Certified physicians

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PGAP2 Gene NGS Test for Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3) – 2800 AED – Dubai, UAE

Executive Summary & Core Metrics

Test Overview & Methodology

Physician Insight & Safety Protocols

Advisory: Medication and Treatment Continuity

Exclusion Criteria & Emergency Red Flags

Patient FAQ & Clinical Guidance

1. What does a PGAP2 NGS test detect and why is it needed in the UAE?

2. Can I use a dried blood spot card for my child’s test?

3. Will my insurance cover this genetic test and the home collection service?

UAE Regulatory & Data Privacy Adherence

Clinical & Logistical Metadata

التحقق من التغطية التأمينية

Preparation Required

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How would you prefer?

PGAP2 Gene NGS Test for Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3) – 2800 AED – Dubai, UAE

Executive Summary & Core Metrics

Test Overview & Methodology

Physician Insight & Safety Protocols

Advisory: Medication and Treatment Continuity

Exclusion Criteria & Emergency Red Flags

Patient FAQ & Clinical Guidance

1. What does a PGAP2 NGS test detect and why is it needed in the UAE?

2. Can I use a dried blood spot card for my child’s test?

3. Will my insurance cover this genetic test and the home collection service?

UAE Regulatory & Data Privacy Adherence

Clinical & Logistical Metadata

التحقق من التغطية التأمينية

📋 Preparation Required

Related Tests

Crigler-Najjar Syndrome Single Gene Sequencing Test

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test

CYLD Gene Analysis for Spiegler-Brooke Syndrome (NGS) Test

RET Gene (Exons 5, 8, 10, 11, 13–16) Selective Sequencing (NGS) Test

Preparation Required