Test Price
2,800 AED✅ Home Collection Available
GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test | AED 2,800 | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS and ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GP1BB gene NGS test identifies pathogenic variants in the GP1BB gene linked to Bernard-Soulier syndrome type B, an inherited platelet disorder characterised by giant platelets, thrombocytopenia, and bleeding tendency. This assay delivers comprehensive coverage of the entire coding region, intron-exon boundaries, and enables copy-number variation (CNV) detection.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing Panel) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; covers entire GP1BB gene including intron-exon boundaries and CNV detection | ~95% sensitivity; limited to selected exons; may miss deep intronic or copy-number variants |
| Methodology | Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation of pathogenic variants | Conventional Sanger sequencing in a smaller targeting panel |
| Turnaround | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
"A confirmed genetic variant in the GP1BB gene indicates an elevated bleeding risk profile, not an immediate disease state. Correlation with platelet function studies, family pedigree analysis, and clinical history is essential before therapeutic decisions are made. This molecular data serves as a cornerstone for personalised haemostatic management."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue any prescribed anti-platelet or anti-coagulant medication without consulting your doctor. Abrupt cessation can trigger a thrombotic event.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active severe bleeding episode, platelet count <20×10⁹/L without medical clearance, or inability to provide informed consent (minors require legal guardian consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: Sudden severe headache, vision changes, or uncontrolled bleeding – seek immediate emergency care; do not delay for a scheduled blood draw.
- Home collection is contraindicated if you have an active bleeding disorder requiring hospital-based haemostatic support.
Patient FAQ & Clinical Guidance
1. What does the GP1BB genetic test detect and how accurate is it?
This NGS test detects pathogenic variants in the GP1BB gene with 99.9% diagnostic sensitivity, revealing hidden bleeding risks and carrier status. It sequences the entire coding region plus flanking intronic boundaries, and all clinically significant findings are validated by orthogonal Sanger sequencing. The report grades variant pathogenicity according to ACMG guidelines.
2. How is the sample collected and what are the pre-test requirements?
Collection is performed via a simple blood draw or buccal swab, requiring a completed clinical history and a genetic counselling session beforehand. A qualified phlebotomist visits your home between 8 AM and 11 PM; the sample is transported in an ISO-certified cold chain. You must fast for 4 hours prior if a whole blood sample is taken, and the test order must include a pedigree chart drawn during the counselling session.
3. Will my insurance cover this genetic test and how is my privacy ensured?
We verify coverage with your insurer via WhatsApp before collection, and all genetic data is protected under UAE 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. No sample or result is shared without your explicit consent. The laboratory adheres to ISO 9001:2015 data governance, and minors are tested only under the strict consent framework of Federal Decree-Law No. 4 of 2016 on Medical Liability. You receive a dedicated encrypted digital report.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: This test is conducted under the governance of DHA Facility License No. 1143. All operations comply 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. The laboratory is ISO 9001:2015 accredited (Cert: INT/EGQ/2509DA/3139). Patient consent and clinical safety protocols adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test (NGS) |
| Price (AED) | 2,800 |
| 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 from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | D69.1 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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