Test Price
2,800 AED✅ Home Collection Available
HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test in UAE | AED 2,800
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Temperature‑Controlled Cold‑Chain Home Collection via VIP Mobile Phlebotomy (Available Daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance with a DHA‑licensed Consultant Medical Genetics to interpret your results.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The HPS1 Genetic Test definitively diagnoses Hermansky‑Pudlak syndrome type 1 by full‑gene sequencing, empowering targeted ophthalmologic, hematologic, and pulmonary management. This analysis detects pathogenic mutations in the HPS1 gene, providing molecular confirmation essential for managing vision loss, bleeding diathesis, and lung fibrosis.
| Feature | Our Test (NGS) | Closest Alternative |
|---|---|---|
| Precision (Analytical Sensitivity) | >99.9% | <95% (limited mutation panel) |
| Method | PCR‑free NGS Full Gene Sequencing | Sanger sequencing (single exon/ mutation) |
| Result Speed | 3‑4 Weeks | 6‑8 Weeks |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I recognize the profound implications an HPS1 diagnosis carries for a patient's quality of life. This comprehensive sequencing test provides the molecular cornerstone needed for tailored surveillance of ocular, hematologic, and pulmonary manifestations. Results must be correlated with clinical findings and discussed within a multidisciplinary care framework."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory: Medication Continuity & Safety
Maintain all prescribed therapies, particularly antiplatelet agents or anticoagulants, unless explicitly directed by your treating physician. Abrupt discontinuation poses significant thrombotic risk. Always consult your specialist before making any changes to your medication regimen.
Patient Suitability & Emergency Red Flags
- Unaccompanied minors under 18 years without legal guardian consent.
- Acute febrile illness or recent blood transfusion (within 2 weeks) may compromise DNA quality and test accuracy.
- Emergency Red Flags: Acute vision loss, severe uncontrolled hemorrhage, or sudden respiratory distress necessitate immediate emergency medical intervention. This genetic test is not intended for acute diagnostic purposes.
Patient FAQ & Clinical Guidance
1. What is the purpose of the HPS1 gene test?
This test screens for pathogenic mutations in the HPS1 gene causing Hermansky-Pudlak syndrome type 1. Early molecular diagnosis enables proactive management of ocular, bleeding, and pulmonary complications.
2. How is the sample collected?
A certified phlebotomist collects a standard peripheral whole blood sample (EDTA tube) or a dried blood spot on an FTA card. Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM for your convenience.
3. When will I receive my results?
Results are typically available within 3 to 4 weeks from sample receipt. They are delivered via a secure patient portal, followed by a teleconsultation with a genetic counselor.
4. Does health insurance cover this test?
DNA Labs UAE offers direct billing verification for select insurance plans. Please contact us via WhatsApp at +971 54 548 8731 to confirm your coverage and eligibility.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates 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. Pre-test genetic counseling is mandatory and provided by our DHA-licensed Consultant Medical Genetics. For bookings, contact +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Specimen |
| Methodology Used | PCR‑free Next‑Generation Sequencing (NGS) Full Gene Sequencing |
| ICD-10-CM Code | E70.3 |
| LOINC Code | 90291-7 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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