Test Price
2,800 AED✅ Home Collection Available
PNP Gene Immunodeficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Processing
✅ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
✅ Clinical Guidance: Telephonic Post-Test Genetic Counseling by Consultant Medical Geneticist
✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This NGS-based Genetic Test detects pathogenic variants in the PNP gene, the definitive cause of purine nucleoside phosphorylase deficiency—a severe combined immunodeficiency with neurological and autoimmune manifestations.
| Feature | Our Test (DHA-Licensed) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq X Plus, 30× coverage) + Sanger confirmation of reported variants | Sanger sequencing of a single exon / limited hot-spot panel |
| Turnaround Time | 3–4 weeks | 5–8 weeks (often sent abroad) |
| Clinical Sensitivity | >99.9% for SNVs, small indels; CNV analysis available on request | ~85% for targeted mutations only |
Physician Insight & Safety Protocols
“A positive PNP variant must always be interpreted alongside clinical and immunological findings; this test confirms the genetic diagnosis but does not replace thorough immunological phenotyping. Parents of affected children should receive multidisciplinary support, and never alter immunosuppressive or replacement therapy without specialist advice.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication or immunoglobulin therapy without consulting your doctor. Genetic test results alone are not a basis to alter treatment.
Exclusion Criteria & ER Red Flags
- Patients with active severe infection, respiratory distress, or altered consciousness are not eligible for home phlebotomy—seek emergency care immediately (call 998).
- This test is not for acute diagnosis; it requires clinical stability and informed consent.
- Red flag symptoms: high fever (>39°C) with rigors, severe dehydration, seizures, or sudden worsening of neurological status require immediate emergency department evaluation.
Patient FAQ & Clinical Guidance
1. What does the PNP gene test detect, and how is it different from standard immune workups?
Our NGS test detects all clinically significant single nucleotide variants, small insertions/deletions, and copy number changes across the entire PNP gene, providing a definitive molecular diagnosis that functional immune assays cannot.
2. Is home blood collection safe for this test, and what samples are accepted?
Home collection is performed by a DHA-licensed phlebotomist using a one-time-use vacuum system; we accept whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card.
3. How do I interpret a “variant of uncertain significance” result for my child?
A VUS result means the variant’s role in disease is not yet proven; we provide a complimentary genetic counseling session to explain reclassification pathways and follow-up immunological testing.
UAE Regulatory & Data Privacy Adherence
- 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.
- All genetic data handled under PDPL with end-to-end encryption.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – laboratory processes audited for quality management.
- DHA Facility License: 1143. Clinical consultation by Lina Osama Zaki Quteineh (DHA 9294403).
- LOINC: 101105-8 – PNP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method.
- Medical liability compliance: Federal Decree-Law No. 4 of 2016 on Medical Liability ensures patient safety and consent protocols.
Clinical & Logistical Metadata
| Test Name | PNP Gene Immunodeficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq X Plus, 30× coverage) with Sanger confirmation |
| ICD-10-CM Code | D81.5 |
| LOINC Code | 101105-8 |
| DHA Facility License & Laboratory Address | DHA License: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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