Test Price
2,800 AED✅ Home Collection Available
GP1BA Gene Bernard-Soulier Syndrome Type A2 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via NGS with orthogonal Sanger confirmation for all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Post-test telephonic result interpretation and genetic counselling referral.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This test employs high-resolution Next-Generation Sequencing (NGS) with a minimum coverage depth of 100× across the entire coding region of the GP1BA gene, the sole gene implicated in Bernard-Soulier syndrome type A2. All detected single-nucleotide variants, small insertions/deletions, and exon-level copy number changes are independently confirmed by orthogonal Sanger sequencing. This dual-methodology approach delivers definitive molecular diagnosis for patients presenting with unexplained macrothrombocytopenia and mucocutaneous bleeding, enabling precise genetic counselling, family cascade screening, and pre-implantation genetic planning.
| Parameter | Our Test (NGS + Sanger) | Standard Single-Gene Sanger |
|---|---|---|
| Methodology | Targeted capture NGS with bioinformatic coverage ≥100×; all pathogenic variants confirmed by orthogonal Sanger sequencing. | Capillary Sanger sequencing of individual exons (may miss large deletions/duplications). |
| Turnaround Time | 3–4 Weeks (includes confirmatory Sanger). | 4–6 Weeks for full gene coverage. |
| Detection Rate | ~99% for single-nucleotide variants, indels, and exon-level copy number changes. | ~95% for SNVs; miss large rearrangements. |
| Clinical Utility | Gold-standard for definitive diagnosis, family cascade screening, and pre-implantation genetics. | Suitable only when a known familial variant is already characterised. |
Physician Insight & Safety Protocols
“A molecular diagnosis of Bernard-Soulier syndrome type A2 through comprehensive GP1BA sequencing transforms uncertainty into a clear clinical roadmap. However, a genetic finding must always be contextualised within the full bleeding phenotype, family pedigree, and platelet functional studies. I strongly recommend a joint consultation with a haematologist and a certified genetic counsellor to translate the result into a personalised surveillance and treatment plan.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusions & Red Flags
- Exclusion: Active, uncontrolled bleeding or severe thrombocytopenia (platelets <30×10⁹/L) – medical stabilisation required prior to elective genetic sampling.
- ER Red Flags: Spontaneous intracranial or gastrointestinal bleeding, sudden large-area ecchymoses, prolonged (>30 minutes) epistaxis, or heavy menstrual haemorrhage with haemodynamic instability. Seek emergency care immediately; this test is not for acute diagnosis.
Patient FAQ & Clinical Guidance
1. What is the turnaround time for the GP1BA NGS test in the UAE?
Answer: The typical turnaround time is 3 to 4 weeks from sample receipt, including confirmatory Sanger sequencing for any detected variants.
2. Is this test covered by UAE health insurance?
Answer: Many UAE insurance plans cover this genetic test when deemed medically necessary; we provide direct billing verification via WhatsApp at +971 54 548 8731.
3. How is the sample collected for the GP1BA gene test?
Answer: We offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM) for peripheral whole blood. Alternatively, a DNA sample can be provided via FTA card without venipuncture.
UAE Regulatory & Data Privacy Adherence
This laboratory operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing genetic data privacy and the Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for health data security. Clinical testing safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All services are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and align with DHA licensing standards. Pre-test genetic counselling and a three-generation pedigree chart are mandatory components; results are subject to strict data privacy protocols.
Clinical & Logistical Metadata
| Test Name | GP1BA Gene Bernard-Soulier Syndrome Type A2 Genetic Test (NGS + Sanger) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (includes confirmatory Sanger sequencing) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card (buccal-derived DNA) |
| Methodology Used | Targeted capture NGS (≥100× coverage) with orthogonal Sanger confirmation |
| ICD-10-CM Code | D69.1 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians