Test Price
2,800 AED✅ Home Collection Available
RPS10 Gene Diamond-Blackfan Anemia Type 9 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
The RPS10 Gene Diamond-Blackfan Anemia Type 9 Genetic Test is a definitive molecular assay utilizing Next Generation Sequencing to screen the entire coding region of the RPS10 gene for pathogenic variants causing Diamond-Blackfan anemia type 9, a congenital pure red cell aplasia typically presenting in infancy. Early diagnosis enables tailored hematologic surveillance, steroid or transfusional management, and timely consideration of stem cell transplantation.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- ✓ 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 provided by DHA-licensed genetics specialists.
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RPS10 Gene Diamond-Blackfan Anemia Type 9 Genetic Test is a definitive molecular assay that screens the entire coding region of the RPS10 gene for pathogenic variants causing Diamond-Blackfan anemia type 9, a congenital pure red cell aplasia typically presenting in infancy. Early diagnosis through NGS enables tailored hematologic surveillance, steroid or transfusional management, and timely consideration of stem cell transplantation. This test is recommended for patients with early-onset pure red cell aplasia, family members at risk, or individuals with a known familial mutation to guide genetic counseling and management decisions.
| Feature | Our ISO-Accredited Test | Closest Alternative |
|---|---|---|
| Technology | NGS (full gene coverage) | Sanger sequencing (targeted hotspots) |
| Sensitivity | >99% for single-nucleotide variants | ~90% (misses deep intronic/CNVs) |
| TAT | 3-4 weeks | 6-8 weeks |
| Pre-/Post-Test Genetic Counselling | Included | Often not offered |
| UAE Regulatory Adherence | Federal Decree-Law No. 45 of 2021 (PDPL) & Federal Law No. 2 of 2019 | Minimal local compliance |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"The RPS10 gene test provides a critical molecular anchor for families navigating early-onset anemia. A positive result must be correlated with bone marrow findings, erythropoietin levels, and physical malformations before making clinical decisions. We advocate for combined hematology-genetics counselling to interpret actionable variants, especially when planning transfusion regimens or curative bone marrow transplantation."
"Genetic results are one piece of the puzzle — they reassure or guide, but they never replace vigilant, multidisciplinary care. Clear communication of carrier status and recurrence risks empowers families to make informed reproductive and therapeutic choices."
Medication Advisory
Do not discontinue prescribed corticosteroids, antibiotics, or any other medication without consulting your attending physician. Abrupt cessation can precipitate adrenal crisis or life-threatening infections in the immunocompromised patient.
Exclusion Criteria & Emergency Red Flags
- ❌ Exclusion: This test is not indicated for emergency diagnosis of acute hemolytic anemia or immediate transfusion decisions. It is a non-urgent genetic screening.
- ❌ Exclusion: Individuals with severe congenital neutropenia mimicking Diamond-Blackfan anemia should first undergo alternative gene panels before focusing on RPS10 alone.
- 🚑 Seek Emergency Care if: Sudden profound pallor, severe fatigue, tachycardia, syncope, or shortness of breath develop — signs of impending cardiovascular collapse due to severe anemia.
- 🚑 Seek Emergency Care if: Fever above 38.3°C in a patient with Diamond-Blackfan anemia, especially if neutropenic, as it may indicate life-threatening sepsis.
Patient FAQ & Clinical Guidance
1. What exactly does the RPS10 gene NGS test diagnose, and who should consider it?
This test definitively identifies pathogenic variants in the RPS10 gene responsible for Diamond-Blackfan anemia type 9, a congenital bone marrow failure disorder. It is recommended for patients with early-onset pure red cell aplasia, family members at risk, or individuals with a known familial mutation to guide genetic counseling and management decisions.
2. How is the sample collected and is home phlebotomy available?
Sample collection is performed via a simple blood draw, extracted DNA, or FTA card. VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection are available daily from 8 AM to 11 PM, ensuring specimen integrity and patient convenience.
3. How long do results take, and will I receive help to interpret them?
You will receive your comprehensive NGS report within 3 to 4 weeks. Our post-test clinical guidance includes a scheduled telephonic session with a DHA-licensed genetic counsellor or hematologist who explains the findings, implications for family members, and the next medical steps in clear, empathetic language.
4. Does insurance cover the cost of this genetic test?
We offer direct billing verification with most major UAE insurers. Please contact our billing team via WhatsApp at +971 54 548 8731 to confirm your specific coverage and any copayment requirements prior to sample collection.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Personal genetic data is classified as sensitive, processed and stored solely within UAE-bound infrastructure with end-to-end encryption.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Mandates secure digital handling of all electronic health records and genetic test data within licensed healthcare facilities.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Establishes the legal framework for clinical testing safety and patient consent requirements prior to genetic analysis.
- ISO 9001:2015 Certification: Our laboratory holds Cert: INT/EGQ/2509DA/3139, guaranteeing standardized, quality-managed molecular diagnostics.
- DHA Facility License Number 1143: Authorized for specialist genetic and hematological investigations within Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | RPS10 Gene Diamond-Blackfan Anemia Type 9 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood / Extracted DNA / FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | D61.0, Z14.8, Z13.79 |
| LOINC Code | 48002-0 – RPS10 gene mutations tested for in Blood or Tissue by Molecular Genetics |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians