Test Price
2,800 AED✅ Home Collection Available
GP1BA Gene Bernard-Soulier Syndrome Type A1 Genetic Test (NGS) in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GP1BA gene NGS test provides definitive diagnosis of Bernard-Soulier Syndrome Type A1, a rare inherited platelet disorder causing prolonged bleeding. This advanced NGS analysis identifies pathogenic variants in the GP1BA gene with exceptional accuracy, enabling precise clinical management and genetic counseling. The test sequences all coding exons and splice sites using bioinformatics pipelines aligned with ACMG guidelines to classify pathogenicity, empowering hematologists to tailor treatment and offer accurate family screening.
| Feature | Our Test (GP1BA NGS) | Closest Alternative (Platelet Assays) |
|---|---|---|
| Detection Method | Next-Generation Sequencing (NGS) with RNA validation | Platelet aggregation / flow cytometry |
| Diagnostic Sensitivity | >99.9% for pathogenic variants | Variable; may miss carriers and subtle defects |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks (functional assay) |
| Sample Requirement | Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Fresh whole blood (must be processed rapidly) |
| Clinical Utility | Definitive mutation identification, carrier testing, family screening | Functional defect only; no carrier information |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I recognize that navigating a bleeding disorder diagnosis can be emotionally challenging. This NGS test provides definitive molecular answers, yet results must always be weighed against clinical history, platelet count, and family pedigree. Comprehensive care includes both accurate testing and empathetic counseling.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuity
⚠️ Do not discontinue prescribed medication without consulting your doctor. Abruptly stopping antiplatelet or anticoagulant therapy may increase the risk of thrombosis or rebound bleeding. Always discuss any changes with your treating physician.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria for Home Collection: Active severe hemorrhage, unstable cardiovascular condition, or known high risk for venipuncture complications. A preliminary clinical screening by our nurse is mandatory.
- Emergency Red Flags: If you experience uncontrolled bleeding, sudden severe bruising, black tarry stools, or vomit containing blood, seek immediate emergency department care.
Patient FAQ & Clinical Guidance
1. What is the GP1BA Gene Bernard-Soulier Syndrome Type A1 Genetic Test?
This genetic NGS test detects GP1BA mutations for Bernard-Soulier Syndrome Type A1 with 99.9% sensitivity. It sequences the entire GP1BA gene to pinpoint causative variants, providing a definitive molecular diagnosis for patients with suspected hereditary macrothrombocytopenia and prolonged bleeding time. The test covers all coding exons and splice sites, using advanced bioinformatics aligned with ACMG guidelines to classify pathogenicity. Results empower hematologists to tailor treatment, such as desmopressin or platelet transfusion planning, and to offer accurate family screening.
2. Who should consider this test?
Patients with unexplained easy bruising, prolonged bleeding, or family history of Bernard-Soulier Syndrome should consider testing. Individuals with known macrothrombocytopenia on complete blood count, abnormal platelet function studies, or recurrent mucosal bleeding (epistaxis, menorrhagia) are prime candidates. Carrier testing is recommended for relatives of confirmed patients, especially in consanguineous families common in the UAE, supporting preventive genetics initiatives under the national health framework.
3. Is home sample collection available for the GP1BA genetic test?
Yes, we provide ISO-certified home collection with temperature-controlled cold-chain transport and VIP phlebotomy throughout the UAE. Our licensed mobile phlebotomists operate from 8 AM to 11 PM every day, collecting either a blood sample in a DNA stabilizer tube or a finger-prick dried blood spot on an FTA card. The entire process adheres to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) cold-chain protocols, and your data is protected under 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.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to UAE federal data protection and health information governance frameworks. All genetic data is processed and stored in compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and transfer of personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating health data confidentiality and cybersecurity standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — ensuring clinical testing safety, informed patient consent, and professional accountability.
Our laboratory holds ISO 9001:2015 accreditation and follows international best practices for genomic data security, ensuring your information remains confidential and protected.
Clinical & Logistical Metadata
| Test Name | GP1BA Gene Bernard-Soulier Syndrome Type A1 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | D69.1 |
| LOINC Code | 82887-5 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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