Test Price
2,800 AED✅ Home Collection Available
HPS4 Gene Hermansky-Pudlak Syndrome Type 4 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for known pathogenic variants via ISO 9001:2015 certified processing (INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test teleconsultation for personalised result interpretation and clinical management planning.
- Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced Next‑Generation Sequencing (NGS) test analyses the entire coding region and exon‑intron boundaries of the HPS4 gene to detect pathogenic variants associated with Hermansky‑Pudlak syndrome type 4 – a rare autosomal recessive disorder characterised by oculocutaneous albinism, platelet storage pool deficiency, and progressive pulmonary fibrosis. Comprehensive copy number variant (CNV) detection is integrated to capture large deletions or duplications that conventional methods may miss.
| Feature | Our Test (NGS HPS4) | Conventional Single‑Gene Sanger Test |
|---|---|---|
| Precision / Methodology | Next‑Generation Sequencing with full exon coverage and integrated CNV detection | Targeted Sanger sequencing – may miss large deletions or duplications |
| Diagnostic Sensitivity | 99.9% for known pathogenic variants | Approximately 85–90% in typical research settings |
| Turnaround & Accreditation | 3–4 weeks, ISO 9001:2015 and DHA‑licensed facility | 6–8 weeks with variable laboratory certifications |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics specialist (DHA: 9294403), I emphasise that comprehensive clinical evaluation alongside genetic testing is essential for accurate diagnosis of Hermansky‑Pudlak syndrome type 4. Pathogenic variants in HPS4 must be interpreted within the full context of clinical presentation, family history, and multidisciplinary assessment. I strongly encourage patients to maintain open communication with their referring physician and to share all test results for integrated care planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics
⚠️ Medication Advisory
Do not discontinue or alter any prescribed medication without prior consultation with your treating physician. Genetic test results provide diagnostic information and do not replace ongoing medical therapy or clinical supervision.
Patient Safety – Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals who are unable to provide informed consent; specimens that do not meet viability standards such as degraded DNA or insufficient volume; prior molecular confirmation of HPS4 without need for repeat testing.
- Red Flags – Seek Immediate Medical Attention: Sudden severe bleeding episodes or unexplained bruising; acute vision changes or eye pain; worsening shortness of breath or new respiratory distress.
Patient FAQ & Clinical Guidance
1. What are the clinical indications for HPS4 genetic testing?
Testing is indicated for individuals presenting with oculocutaneous albinism, unexplained bleeding tendency, or pulmonary fibrosis to confirm or exclude Hermansky‑Pudlak syndrome type 4. Early molecular diagnosis guides surveillance, management, and family counselling.
2. How accurate is the HPS4 NGS genetic test?
Our NGS assay achieves 99.9% diagnostic sensitivity for known pathogenic variants within the HPS4 gene, with full exon coverage and integrated CNV detection. This provides a definitive molecular diagnosis and distinguishes type 4 from other Hermansky‑Pudlak subtypes.
3. What is the turnaround time for HPS4 genetic test results?
Results are typically available within 3 to 4 weeks from sample receipt, allowing sufficient time for comprehensive sequencing, bioinformatic analysis, and expert clinical interpretation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to the highest standards of data protection and clinical governance. All patient genetic data are processed and stored in 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 are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that every test is conducted with full informed consent and respect for patient autonomy.
Clinical & Logistical Metadata
| Test Name | HPS4 Gene Hermansky‑Pudlak Syndrome Type 4 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA Tube) or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with Full Exon Coverage & CNV Detection |
| ICD‑10‑CM Code | E70.331 |
| LOINC Code | 81262-3 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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