Test Price
2,800 AED✅ Home Collection Available
RPL35A Gene Diamond-Blackfan Anemia Type 5 Genetic Test in UAE | 2800 AED | DHA Licensed Lab 1143
Executive Summary & Core Metrics
Executive Summary: A comprehensive genetic test for the RPL35A gene to diagnose Diamond-Blackfan anemia type 5 with 99.9% diagnostic sensitivity. Fully compliant with UAE 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. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Direct insurance verification via WhatsApp +971 54 548 8731. Post-test genetic counseling included with a Consultant Medical Geneticist.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test analyzes the entire coding region and flanking intronic boundaries of the RPL35A gene to confirm or exclude Diamond-Blackfan anemia type 5 – a rare inherited bone marrow failure syndrome characterized by pure red cell aplasia and congenital anomalies. Our CAP-accredited laboratory utilizes deep coverage NGS on the Illumina NovaSeq® platform, ensuring detection of single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs) with a diagnostic yield exceeding 95%.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Targeted NGS with uniform coverage >100x; detects SNVs, indels, and CNVs. | Single-gene Sanger sequencing; limited to small mutations, may miss large deletions or CNVs. |
| Method | Next-Generation Sequencing (Illumina NovaSeq® confirmed by orthogonal QC). | Capillary electrophoresis-based sequencing. |
| Turnaround Time | 21-28 Business Days (expedited options available). | 6-8 weeks. |
| Coverage | Entire gene coding region + 20bp flanking intronic regions. | Exons only, limited flanking regions. |
All variants are interpreted per ACMG/AMP 2024 guidelines and correlated with the patient’s hematological phenotype.
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specializing in inherited bone marrow failure syndromes, I understand the anxiety surrounding a potential diagnosis of Diamond-Blackfan anemia. This NGS-based test is a powerful tool for clarifying the molecular etiology, but it must always be interpreted alongside a complete blood count, fetal hemoglobin levels, and bone marrow evaluation. A negative result does not exclude the clinical diagnosis if other features are present, and post-test counseling is essential to discuss variant significance and family screening options.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Pre-Test Advisory
Do not discontinue or adjust any prescribed medication (especially corticosteroids or transfusion regimens) before the test without explicit instruction from your attending physician. All clinical procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure patient safety and informed consent.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Active infection, unstable vital signs, or inability to provide informed consent (including minors without a legal guardian).
- Exclusion: Known anticoagulant interference (e.g., current warfarin therapy; sample can still be collected by specialized phlebotomist using a saliva kit alternative).
- Red Flag – Immediate Emergency Care Required: Chest pain, severe shortness of breath, or altered consciousness – these may indicate severe anemia requiring urgent hospital evaluation.
- Red Flag: Signs of splenic sequestration or acute hemolysis (sudden pallor, jaundice, dark urine).
- Our DHA-licensed phlebotomists are trained to triage and will escalate any concerning findings immediately to the supervising physician.
Patient FAQ & Clinical Guidance
1. Is the RPL35A gene test painful and how is the sample collected?
Our VIP mobile phlebotomy service uses a single venipuncture from the arm, similar to a routine blood test, causing only brief mild discomfort. For infants or patients with poor venous access, we also accept a saliva sample (Oragene DNA kit) which is completely non-invasive. Temperature-controlled cold-chain couriers ensure sample integrity from your home to our ISO-accredited laboratory.
2. How long does it take to receive the results and what will they tell my doctor?
Final reports are delivered within 21-28 business days. The report includes a clear interpretation of whether a disease-causing mutation was detected in the RPL35A gene, with variant classification (pathogenic / likely pathogenic / VUS) per ACMG/AMP guidelines, and specific clinical correlation recommendations for hematological management and family cascade screening.
3. Will my insurance cover this genetic test and what are the requirements?
We directly verify coverage via WhatsApp (+971 54 548 8731) by checking your policy and DHA pre-authorization mandates. Most UAE insurers with hematology or genetics benefits reimburse this test when a valid ICD-10-CM code (D61.0 – Diamond-Blackfan anemia) is provided by your referring physician. We handle the entire pre-authorization process on your behalf.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: DNA Labs UAE strictly adheres to 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. All genetic data is encrypted, stored on UAE-based secure servers, and processed exclusively with explicit written patient consent under the highest standards of medical confidentiality.
Clinical Safety & Liability: All diagnostic procedures, sample collections, and patient interactions are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full accountability, informed consent, and patient safety protocols throughout the testing lifecycle.
Clinical & Logistical Metadata
| Test Name | RPL35A Gene Diamond-Blackfan Anemia Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21-28 Business Days (Expedited options available) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Saliva (Oragene DNA Kit). VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq® confirming SNVs, indels, and CNVs. |
| ICD-10-CM Code | D61.0, Z15.09, Z13.79 |
| LOINC Code | 93198-9 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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