Test Price
2,800 AED✅ Home Collection Available
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Diagnostic Sensitivity 99.9% via ISO-Certified Processing
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Post-test clinical guidance telephonically with our genetic counsellors.
Direct billing verification & insurance pre-approval via WhatsApp +971 54 548 8731
3–4 Weeks TAT
ISO 9001:2015 Certified
Test Overview & Methodology
The AP3B1 NGS test screens the entire coding region of the AP3B1 gene for pathogenic variants linked to Hermansky‑Pudlak syndrome type 2 – a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency, and progressive pulmonary fibrosis. This test is essential for definitive molecular diagnosis, carrier screening, and family planning in at‑risk UAE populations.
| Feature | Our NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene coverage | Single‑exon sequencing, limited to known hot‑spots |
| Diagnostic Sensitivity | 99.9% for SNVs, indels, and CNVs | ~85% (misses deep intronic/regulatory variants) |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
Physician Insight & Safety Protocols
"I always remind families that a genetic test result is a piece of a larger puzzle – it must be weighed alongside clinical findings, bleeding history, and visual assessments. Please, never stop prescribed medications on your own; changes in therapy should only occur under specialist supervision. If you or your child experience sudden severe bleeding, easy bruising with no injury, or a rapid decline in vision, seek emergency care immediately."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Precautions & Advisory
- Do not discontinue prescribed medication without consulting your doctor.
- Informed Consent: Per Federal Decree-Law No. 4 of 2016 on Medical Liability, informed consent is required. Minors require legal guardian consent.
- ER Red Flags: Acute hemorrhage, sudden blindness, or unexplained severe bruising/bleeding after trivial trauma – seek emergency care immediately.
Exclusion Criteria
- Individuals unable to provide informed consent (minors without legal guardian) are excluded from the test.
- Those unwilling to undergo genetic counselling as part of the post-test process.
Patient FAQ & Clinical Guidance
1. What exactly does the AP3B1 gene test detect?
This NGS‑based assay detects single nucleotide variants, small insertions/deletions, and copy number variants across the entire AP3B1 gene, pinpointing the molecular cause of Hermansky‑Pudlak syndrome type 2. It serves as a definitive diagnostic tool when clinical signs like albinism, nystagmus, and prolonged bleeding are present.
2. How is the sample collected and is home service available?
A trained phlebotomist visits your home between 8 AM and 11 PM to draw a small blood sample or provide a buccal swab using a cold‑chain transport kit. The premium mobile service preserves sample integrity and meets ISO 9001:2015 logistics standards.
3. What is the turnaround time for results?
Results are typically available within 3 to 4 weeks and include a post-test genetic counselling session to interpret the report and correlate with family medical history.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This service fully complies with the following UAE federal laws and standards:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic data is processed, stored, and transferred with the highest privacy standards.
- Federal Law No. 2 of 2019 – concerning the Use of Information and Communication Technology in Health Fields, governing secure data handling in clinical diagnostics.
- ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) for quality management in laboratory and logistics processes.
All genetic testing is performed under the oversight of Lina Osama Zaki Quteineh, Consultant Medical Genetics, to ensure clinical accuracy and ethical compliance.
Clinical & Logistical Metadata
| Test Name | AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 weeks |
| Sample Type / Matrix | Peripheral whole blood or buccal swab; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coverage including coding region and splice sites |
| ICD-10-CM Code | E70.320 (Hermansky-Pudlak syndrome), D69.1 (Qualitative platelet defects), H55.8 (Other irregular eye movements) |
| LOINC Code | 81247-7 (AP3B1 gene test) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians