Test Price
2,800 AED✅ Home Collection Available
RBM8A Gene Thrombocytopenia‑Absent Radius Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for single‑nucleotide variants and small indels via ISO‑accredited next‑generation sequencing.
- Collection Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- Post‑Test Support: Telephonic clinical guidance provided by a consultant medical geneticist for result interpretation.
- Insurance Verification: Direct billing confirmation available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RBM8A gene Thrombocytopenia‑Absent Radius (TAR) syndrome NGS test is a definitive molecular diagnostic assay designed to detect pathogenic variants in the RBM8A gene, confirming TAR syndrome in patients presenting with thrombocytopenia and bilateral radial aplasia. This assay interrogates the entire coding region plus ±20 base pairs of intronic boundaries, ensuring high sensitivity for exon‑level and splice‑site variants.
| Feature | Our RBM8A NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next‑Generation Sequencing (NGS) | Sanger Sequencing (single‑gene) |
| Coverage | 100% coding region ±20 bp intron boundaries | Limited to few exons; deep intronic variants missed |
| Sensitivity | >99.9% for SNVs, indels ≤3 bp | ~95–98% for targeted regions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | Often >3200 AED |
Physician Insight & Safety Protocols
“Interpreting RBM8A gene variants requires integrating molecular data with the complete clinical picture—platelet counts, limb imaging, and a three‑generation pedigree. A pathogenic variant confirms TAR syndrome, but a negative result does not exclude the diagnosis when clinical suspicion remains high. Always correlate molecular findings with your genetic specialist before making medical decisions.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Medication Continuity
Do not discontinue or alter any prescribed medications, particularly anti‑thrombotic or immunosuppressive therapies, without consulting your treating physician. This genetic test provides diagnostic confirmation and does not replace ongoing clinical management or emergency care.
Exclusion Criteria & Urgent Red Flags
- Sample Exclusion: Inadequate volume, hemolyzed or clotted blood, recent allogeneic blood transfusion (may interfere with germline DNA interpretation).
- Patient Preparation: Genetic counseling is mandatory before sample collection; a three‑generation pedigree chart of affected family members is highly recommended.
- Emergency Red Flags: Acute severe bleeding (petechiae, mucosal haemorrhage), sudden limb deformity, or signs of sepsis require immediate emergency care—do not delay treatment pending test results.
Patient FAQ & Clinical Guidance
1. What is the RBM8A gene test used for?
This test identifies pathogenic variants in the RBM8A gene to confirm a diagnosis of Thrombocytopenia‑Absent Radius syndrome, a rare inherited disorder affecting blood platelets and limb development. It guides early intervention, familial risk assessment, and reproductive planning.
2. How is the RBM8A genetic test performed?
A peripheral whole blood sample is collected via mobile phlebotomy or at a draw station. DNA is extracted and analysed using next‑generation sequencing in an ISO‑accredited laboratory. Results are typically available within 3–4 weeks, followed by a telephonic consultation with a genetic specialist.
3. What do my results mean?
A pathogenic or likely pathogenic variant confirms the molecular diagnosis of TAR syndrome, prompting immediate haematology and orthopaedic follow‑up. A negative result does not exclude the condition if clinical suspicion remains high, as rare non‑coding variants or gene‑gene interactions may be responsible.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with UAE federal legislation governing health data and personal privacy:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating digital health data exchange and telemedicine practices.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability — establishing standards for clinical safety and patient consent in diagnostic procedures.
All genetic data is encrypted, access‑controlled, and retained only for the duration required by law. Patients retain the right to access, rectify, or request deletion of their data in accordance with PDPL.
Clinical & Logistical Metadata
| Test Name | RBM8A Gene Thrombocytopenia‑Absent Radius Syndrome NGS Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD‑10‑CM Code | Q87.2 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians