Test Price
2,800 AED✅ Home Collection Available
RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- ✓ 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 from a Consultant Medical Geneticist.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RPS17 Gene NGS Test employs next-generation sequencing to detect pathogenic variants in the RPS17 gene associated with Diamond-Blackfan anemia type 4, a constitutional bone marrow failure syndrome. This test is indicated for diagnostic confirmation, carrier screening, and family planning in at-risk individuals.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | Full gene coverage with single‑nucleotide variant & copy‑number detection | Limited to targeted exons; may miss deep intronic or regulatory variants |
| Methodology | Next‑Generation Sequencing (NGS) on Illumina® platform with ISO‑validated bioinformatics | Capillary Sanger sequencing, lower throughput |
| Turnaround Time | 3–4 Weeks from sample receipt | 6–8 Weeks typical |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that genetic testing for Diamond-Blackfan anemia must be interpreted in the context of the full clinical presentation, family history, and hematological workup. Predictive testing for at-risk relatives requires pre‑test genetic counseling to ensure informed decision‑making.”
⚠️ Advisory – Do Not Discontinue Prescribed Medication
If you are currently on treatment for Diamond-Blackfan anemia, do not stop or modify your medication without consulting your treating physician. Test results are meant to guide management, not replace ongoing care.
Exclusion Criteria & ER Red Flags
- Exclusion Criteria: Active systemic infection, recent allogeneic stem cell transplant, inability to provide informed consent. Pre‑test genetic counseling is mandatory for all patients.
- Emergency Red Flags: If you experience severe shortness of breath, chest pain, fainting, or signs of extreme anemia, seek immediate medical attention – do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the RPS17 Gene Test?
The RPS17 gene test uses next-generation sequencing to identify disease-causing mutations linked to Diamond-Blackfan anemia type 4, a rare inherited bone marrow failure disorder. It provides a definitive molecular diagnosis and enables carrier testing for family members.
2. How is the sample collected?
A blood sample or DNA from a painless cheek swab is collected via our VIP Mobile Phlebotomy service at your home. No fasting is required, and the entire home visit lasts about 15 minutes. Samples are transported under temperature-controlled cold-chain.
3. What do my results mean?
A positive result confirms a pathogenic RPS17 variant, guiding diagnosis and family screening; a negative result significantly reduces the likelihood but does not rule out other genetic causes. All reports include an interpretation by our Consultant Medical Geneticist and recommendations for follow-up.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies with all relevant UAE federal laws. Patient data is protected in accordance with 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 follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood or buccal swab – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform |
| ICD-10-CM Code | D61.09 (Other constitutional aplastic anemia) |
| LOINC Code | 21674-6 (Genetic testing for inherited thrombophilia – applicable gene-specific variant analysis) |
| 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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