Test Price
2,800 AED✅ Home Collection Available
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين AP3B1 لمتلازمة هيرمانسكي‑بودلاك النوع الثاني (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
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📞 Post‑test clinical guidance telephonically with our genetic counsellors.
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3–4 Weeks TAT
ISO 9001:2015 Certified
Overview
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 Protocol
“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.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
Clinical Pre‑cautions & ER Red Flags
- Do not discontinue prescribed medication without consulting your doctor.
- Exclusion Criteria: Individuals unable to provide informed consent (minors without legal guardian, per UAE CDS Law 2026); those unwilling to undergo genetic counselling.
- ER Red Flags: Acute hemorrhage, sudden blindness, or unexplained severe bruising/bleeding after trivial trauma.
Patient FAQ & Clinical Guidance
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.
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.
ما هي مدة الحصول على النتائج؟
تستغرق النتائج عادةً من 3 إلى 4 أسابيع، وتشمل جلسة استشارة وراثية لتفسير التقرير الجيني وربطه بالتاريخ الطبي للعائلة.
This service complies with UAE Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), and UAE PDPL. Processing is performed under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
2026 ICD‑10‑CM codes: E70.320 (Hermansky‑Pudlak syndrome), D69.1 (Qualitative platelet defects), H55.8 (Other irregular eye movements). LOINC: 81247‑7 (AP3B1 gene test).
Primary specialists for this: Clinical Geneticist, Ophthalmologist, Hematologist.
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