Test Price
2,800 AED✅ Home Collection Available
RPS19 Gene Diamond-Blackfan Anemia Type 1 Genetic Test (NGS) – Dubai, UAE
Executive Summary & Core Metrics
ISO‑Certified Precision
- 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RPS19 Genetic Test comprehensively screens the entire coding region of the RPS19 gene to identify pathogenic variants responsible for Diamond‑Blackfan anemia type 1, enabling accurate diagnosis and personalized management.
| Parameter | Our Test – RPS19 NGS | Closest Alternative (Sanger / MLPA) |
|---|---|---|
| Precision | Full gene coverage (exons, splice sites, CNV) | Limited to known hotspots; may miss large deletions |
| Method | Next Generation Sequencing (NGS) with bioinformatic confirmation | Sanger sequencing + multiplex ligation‑dependent probe amplification |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks (sequential testing) |
Physician Insight & Safety Protocols
"As a clinical geneticist, I emphasize that the RPS19 genetic test is a cornerstone for diagnosing Diamond-Blackfan anemia type 1. However, a positive result must be interpreted within the full clinical context, including family history and hematological findings, to guide appropriate management and genetic counseling." – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Pre-Test Requirements
Mandatory Genetic Counseling: A pre-test genetic counseling session must be completed to document clinical history and construct a pedigree chart of affected family members before sample collection, in accordance with DHA and UAE genetic testing regulations. This ensures informed consent and appropriate test selection.
Safety Exclusion Criteria & Red Flags
- Exclusion: Patients who have received an allogeneic stem cell transplant within the last 3 months (may cause donor DNA interference).
- Exclusion: Active severe systemic infection or hemodynamic instability that precludes safe phlebotomy.
- Emergency Red Flags: If the patient experiences syncope, severe chest pain, or extreme pallor/lethargy, seek immediate emergency care – do not delay for sample collection.
- Urgent Referral: New unexplained bruising or bleeding should prompt an immediate hematology consult prior to genetic testing.
Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Patient FAQ & Clinical Guidance
1. What does a positive RPS19 mutation result mean?
A positive RPS19 mutation confirms a molecular diagnosis of Diamond‑Blackfan anemia type 1 with over 99.9% specificity, guiding targeted therapy and family surveillance. It indicates an inherited or de novo pathogenic variant in the RPS19 gene, which is the most common cause of DBA. This result allows clinicians to tailor treatment (steroids, transfusions, or stem cell transplant) and to offer accurate genetic counselling for family planning. A negative result, however, does not exclude DBA, as mutations in other ribosomal protein genes can be responsible.
2. How long does it take to get the results?
Results for the RPS19 Genetic Test are typically reported within 3 to 4 weeks from sample receipt. This turnaround includes DNA extraction, library preparation, high‑throughput sequencing, bioinformatic analysis, and comprehensive clinical reporting by our molecular geneticists. Factors such as sample quality or the need for confirmatory Sanger sequencing may occasionally extend this timeline; we will notify you of any delays proactively. A dedicated case coordinator will provide status updates via WhatsApp.
3. Do I need genetic counseling before or after the test?
Pre‑ and post‑test genetic counseling is mandatory to understand the implications of the result and inheritance pattern. A pre‑test session will document your family history, explain the testing process, and discuss potential outcomes, including variants of uncertain significance. After receiving results, a post‑ consultation with a certified genetic counsellor is essential to interpret findings, address psychological impact, and plan health management or reproductive options. Our service includes access to DHA‑licensed genetic counselling experts.
UAE Regulatory & Data Privacy Adherence
All genetic testing services at DNA Labs UAE are performed in strict compliance with the following UAE legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Ensuring the confidentiality and security of your genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Governing the electronic handling of health data and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Governing clinical testing safety, patient consent, and professional accountability.
- DHA License No: 1143 – Our laboratory operates under the Dubai Health Authority license at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | RPS19 Gene Diamond-Blackfan Anemia Type 1 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 Business Days) |
| Sample Type / Matrix | Whole Blood (Peripheral) – EDTA Tube |
| Methodology Used | Next Generation Sequencing (NGS) with Bioinformatic Confirmation |
| ICD-10-CM Code | D61.09 |
| LOINC Code | 21632-6 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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