Test Price
2,800 AED✅ Home Collection Available
PIK3R1 Gene (Immunodeficiency Type 36) Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region of the PIK3R1 gene to diagnose Activated PI3K-delta Syndrome Type 2 (APDS2), a primary immunodeficiency characterized by recurrent sino-pulmonary infections, lymphoproliferation, and atopic dermatitis. The test is performed using Illumina NovaSeq X Plus technology, enabling detection of single nucleotide variants, small insertions/deletions, and deep intronic mutations that may be missed by traditional Sanger sequencing.
| Feature | Our Test (DNA Labs UAE NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Methodology | Illumina NovaSeq X Plus – full gene sequencing | Sanger sequencing – limited to selected exons |
| Diagnostic Sensitivity | 99.9% | ~85% (may miss deep intronic variants) |
| Turnaround Time | 3‑4 weeks | 6‑8 weeks |
| Home Collection (Cold-Chain) | DHA‑licensed mobile team, 8 AM‑11 PM | Not available |
| Genetic Counselling Included | Post‑test telephonic session | Referral needed |
Physician Insight & Safety Protocols
“A molecular diagnosis of PIK3R1-related immunodeficiency is a pivotal moment in managing a patient with recurrent infections. This test not only confirms APDS2 but also guides targeted therapies and informs carrier screening for at-risk family members. Always interpret genetic results within the complete clinical context.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Do Not Discontinue Medications
It is essential not to stop any prescribed immunomodulators, antibiotics, or other therapies without consulting your doctor. Genetic test results are intended to complement, not replace, ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Not suitable for patients with active sepsis or hemodynamic instability that prevents safe sample transport.
- For minors, a separate pediatric consent form is mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability; guardian must be present during collection.
- Emergency Red Flags: Sudden high fever with chills, severe respiratory distress, or signs of systemic infection – seek immediate emergency care; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the PIK3R1 gene test used for?
This test analyzes the entire PIK3R1 coding sequence to confirm a diagnosis of Activated PI3K-delta Syndrome Type 2 (APDS2), an inherited primary immunodeficiency causing recurrent sino‑pulmonary infections, lymphoproliferation, and atopic dermatitis. Identification of pathogenic variants enables targeted therapy with mTOR inhibitors and appropriate infection prophylaxis.
2. How is the sample collected for this genetic test?
A DHA‑licensed nurse performs a hospital‑grade home collection of 2 mL whole blood or a dried blood spot on an FTA card, ensuring cold‑chain transport at 2‑8 °C until processing. Our mobile team is available daily from 8 AM to 11 PM.
3. What does the 2800 AED price include?
The 2800 AED covers next‑generation sequencing with comprehensive bioinformatic analysis, a detailed clinical report interpreted by molecular pathologists, and a post‑test genetic counselling session.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance
Your genetic data is 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. All sequencing data is encrypted, access-controlled, and stored within UAE-based servers. DNA Labs UAE adheres to strict confidentiality protocols to ensure your genomic information remains private and secure.
Clinical & Logistical Metadata
| Test Name | PIK3R1 Gene (Immunodeficiency Type 36) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3‑4 weeks |
| Sample Type / Matrix | Whole Blood (2 mL) or Dried Blood Spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq X Plus) |
| ICD-10-CM Code | D81.8 |
| LOINC Code | 81313-2 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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