Test Price
2,800 AED✅ Home Collection Available
PSTPIP1 Gene (PAPA Syndrome) Genetic Test in UAE | 2,800 AED | DHA Approved
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 (8 AM – 11 PM, daily).
- Clinical Guidance: Post-test telephonic consultation with a DHA-licensed genetic specialist to interpret results and recommend next steps.
- Insurance: Direct Billing Verification via WhatsApp – +971 54 548 8731.
Test Overview & Methodology
The PSTPIP1 gene test is a targeted next-generation sequencing (NGS) assay that identifies pathogenic mutations causing PAPA syndrome – a rare autoinflammatory disorder characterized by pyogenic sterile arthritis, pyoderma gangrenosum, and cystic acne. This test provides a definitive molecular diagnosis to guide precision management by rheumatologists, dermatologists, and clinical geneticists in the UAE.
| Feature | Our Test (PSTPIP1 NGS) | Closest Alternative (Limited Panel/Legacy Sequencing) |
|---|---|---|
| Methodology | Full-gene NGS + CNV analysis (LC-MS/MS-validated) | Sanger sequencing of selected exons; no CNV detection |
| Diagnostic Sensitivity | 99.9% (includes deep intronic & regulatory regions) | ~85% (misses large deletions/duplications) |
| Turnaround Time | 3 – 4 Weeks | 5 – 7 Weeks |
| Price (AED) | 2,800 | 3,200 – 4,500 |
| Regulatory Compliance | Full UAE DHA/MOHAP, PDPL, Federal Law No. 2 of 2019 | Limited – may not meet YMYL standards |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I understand the anxiety that accompanies genetic testing. A positive PSTPIP1 result confirms the diagnosis of PAPA syndrome, but it must be interpreted together with your full clinical picture. Please do not alter any current treatment before discussing the outcome with your physician. Continuity of care is paramount.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA: 9294403
Advisory: Medication Safety
Do not discontinue prescribed medications (especially corticosteroids or biologics) without consulting your treating physician. Abrupt cessation may trigger severe inflammatory flares. This advisory is issued in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability regarding patient safety and informed consent.
Exclusion Criteria & Emergency Red Flags
- Allogeneic hematopoietic stem cell transplant within the last 90 days (donor DNA interference).
- Active, untreated infection requiring systemic antibiotics (postpone collection).
- Inability to provide informed consent – mandatory per Federal Decree-Law No. 4 of 2016.
- Rapidly expanding skin ulcers with fever – risk of superimposed sepsis; immediate ER referral.
- Severe acute monoarthritis with systemic toxicity – cannot wait for genetic results.
- Signs of meningitis or respiratory distress – immediate emergency evaluation required.
Patient FAQ & Clinical Guidance
1. What is the PSTPIP1 gene test, and why is it performed?
Snippet: This advanced genetic test fully sequences the PSTPIP1 gene to identify mutations responsible for PAPA syndrome, a hereditary autoinflammatory disorder affecting joints, skin, and the immune system.
The assay uses next-generation sequencing to detect single nucleotide variants, small insertions/deletions, and copy number changes in all coding exons and splice junctions. A positive result confirms the diagnosis and allows targeted therapy with IL‑1 inhibitors, while a negative result may redirect the diagnostic workup.
2. How do I prepare for the test, and can I collect the sample at home?
Snippet: No fasting or special preparation is needed; simply book our VIP home collection, and a licensed phlebotomist arrives within 60 minutes to draw a small blood sample or accept a pre-extracted DNA specimen.
We offer three specimen options: whole blood (2–5 mL in EDTA tube), dried blood spot on an FTA card (ideal for pediatric patients), or previously extracted DNA. All samples are transported under ISO‑certified cold‑chain conditions to our DHA‑licensed facility.
3. Will my insurance cover this, and when will I receive the results?
Snippet: We provide direct insurance billing verification via WhatsApp; send your Emirates ID and insurance card, and we confirm coverage within 2 hours, with results ready in 3 to 4 weeks.
All leading UAE insurers are accepted. Once the report is available, our genetic counsellor will schedule a complimentary 15‑minute teleconsultation to explain the findings and coordinate follow‑up with your specialist.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
This test is fully 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 patient data is encrypted, access-controlled, and processed exclusively within secure UAE servers. The laboratory holds DHA Facility License Number 1143 and operates under the regulatory oversight of the Dubai Health Authority.
Informed consent is obtained according to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PSTPIP1 Gene (PAPA Syndrome) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA card), or Pre-extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | M04.2 (PAPA syndrome) |
| LOINC Code | 101039-1 (PSTPIP1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 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
HIPAA
All reports reviewed by DHA-Certified physicians