Test Price
2,800 AED✅ Home Collection Available
RPS28 Gene Diamond‑Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory Testing
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 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
This NGS‑based genetic test analyses the RPS28 gene for pathogenic variants linked to Diamond‑Blackfan anemia type 15 with mandibulofacial dysostosis. Our ISO 9001:2015 certified laboratory delivers high clinical accuracy and a rapid 3–4 week turnaround. All positive findings are confirmed by Sanger sequencing, ensuring 99.9% analytical sensitivity for both known and novel variants within the coding and flanking intronic regions.
| Feature | Our Test (RPS28 NGS) | Closest Alternative (Standard Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity with Sanger validation | Variable; misses deep intronic variants |
| Method | Advanced NGS (Illumina) with high‑depth coverage | Bidirectional Sanger sequencing |
| Speed | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that this targeted NGS analysis of the RPS28 gene provides definitive molecular evidence for Diamond‑Blackfan anemia type 15. However, the result must always be integrated with full haematological assessment and craniofacial evaluation. Please review the findings with your geneticist or paediatric haematologist before initiating any management plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Medication Advisory
⚠️ Do Not Discontinue Prescribed Medication
Do not stop or alter any prescribed therapy, including corticosteroids or transfusion regimens, without consulting the managing physician. Genetic test results are intended to inform, not replace, ongoing clinical care.
Exclusion Criteria & Safety Alerts
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not indicated for individuals without clinical suspicion of Diamond‑Blackfan anemia or a family‑confirmed RPS28 variant; pre‑test genetic counselling is mandatory.
- Emergency Red Flags: If the patient develops severe pallor, respiratory distress, or syncope, seek immediate medical attention – do not wait for genetic results.
- Must be ordered by or in consultation with a specialist paediatric haematologist, clinical geneticist, or neonatologist.
Patient FAQ & Clinical Guidance
1. What does the RPS28 gene test detect?
This NGS test identifies pathogenic variants in the RPS28 gene responsible for Diamond‑Blackfan anemia type 15 and associated mandibulofacial dysostosis. A positive result confirms the molecular diagnosis, guiding bone marrow surveillance and craniofacial management. All results are verified by Sanger sequencing, ensuring 99.9% analytical accuracy.
2. What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample receipt. The timeline may vary slightly depending on sample quality and sequencing depth. You will be notified as soon as the report is ready, and a telephonic genetic counselling session will be scheduled.
3. Is a blood sample the only acceptable specimen?
We accept whole blood, extracted DNA, or a single drop on an FTA card, offering maximum flexibility. The FTA card enables safe transport at ambient temperature, ideal for home collection. All specimen types perform equivalently in our validated NGS workflow.
4. How should I prepare for the test?
No special preparation such as fasting is required for this genetic test. However, you must complete a pre‑test genetic counselling session and provide a signed informed consent. Please bring any prior haematology or genetic reports if available.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with UAE federal data protection and health information regulations. All personal and genetic data are processed 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. Clinical safety and patient consent requirements adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is licensed by the Dubai Health Authority (DHA License No. 1143) and operates in accordance with DHA standards for genetic testing and laboratory accreditation.
Clinical & Logistical Metadata
| Test Name | RPS28 Gene Diamond‑Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Validation |
| ICD-10-CM Code | D61.0, Q75.4 |
| LOINC Code | 92811-2 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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