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2,800 AED

✅ Home Collection Available

RPS24 Gene Diamond-Blackfan Anemia Type 3 Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Certified NGS Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Clinical Guidance: Post-Test Telephonic Genetic Counselling by Consultant Medical Genetics.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This comprehensive Next-Generation Sequencing (NGS) test decodes the entire RPS24 gene to identify pathogenic variants causing Diamond-Blackfan anemia type 3 – a rare congenital bone marrow failure syndrome. It empowers precise diagnosis, guides haematological management, and enables informed genetic counselling for affected families in the UAE.

Feature Our Test – RPS24 NGS Closest Alternative – Sanger Sequencing
Precision >99.9% Diagnostic Sensitivity ~95% for single-nucleotide variants
Methodology Next-Generation Sequencing (NGS) – Full gene coverage Capillary Sequencing (targeted exon-by-exon)
Turnaround Time 3 to 4 Weeks 6–8 Weeks
Sample Type Whole Blood, Extracted DNA, or FTA Card Blood or DNA (limited throughput)
Price (UAE) 2800 AED ~3500 AED

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I emphasize that RPS24 NGS results must be interpreted alongside a complete blood count, family history, and bone marrow evaluation when available. A negative result does not exclude Diamond-Blackfan anemia, as other genes (e.g., RPL5, RPL11, RPS19) may be involved. Genetic counselling is advised for all patients and their families.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)

Advisory – Medication and Clinical Considerations

Important Clinical Advisory

Patients currently on corticosteroid therapy or other haematological treatments should not discontinue medication without explicit consultation with their treating haematologist. Abrupt cessation can lead to severe anaemia or adrenal crisis. This test is for diagnostic confirmation and does not replace ongoing clinical management.

Safety Exclusion Criteria & Emergency Red Flags

  • Exclusion: Current acute infection requiring hospitalization, active bleeding diathesis, or inability to provide informed consent.
  • Emergency Red Flags: Sudden extreme pallor, shortness of breath at rest, chest pain, or loss of consciousness — seek immediate emergency care before scheduling this test.

Patient FAQ & Clinical Guidance

1. What is the RPS24 gene and its role in Diamond-Blackfan anemia?

RPS24 gene mutations cause Diamond-Blackfan anemia type 3, a rare congenital bone marrow failure syndrome. These variants impair ribosomal biogenesis, leading to severe red cell aplasia and transfusion dependency in infancy. The NGS test accurately detects such mutations.

2. How is the RPS24 genetic test performed?

The test uses Next-Generation Sequencing to analyze all coding exons of the RPS24 gene from a blood sample. A single tube of whole blood, extracted DNA, or a dry FTA card is sufficient. Bioinformatic variant interpretation ensures high sensitivity and specificity.

3. What do the results mean for my health and family?

A positive result confirms Diamond-Blackfan anemia type 3, guiding treatment and family genetic screening. It indicates an autosomal dominant inheritance pattern, enabling cascade testing for relatives and personalized long-term surveillance for leukemia predisposition. A negative result does not exclude the condition.

UAE Regulatory & Data Privacy Adherence

100% compliant 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. Patient safety and informed consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic counselling sessions adhere to DHA guidelines. For further inquiries, contact our DHA-licensed facility.

Clinical & Logistical Metadata

Test Name RPS24 Gene Diamond-Blackfan Anemia Type 3 Genetic Test (NGS)
Price (AED) 2800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood, Extracted DNA, or FTA Card (Peripheral Blood – VIP Mobile Phlebotomy Available)
Methodology Used Next-Generation Sequencing (NGS) – Full Gene Coverage
ICD-10-CM Code D61.0 (Constitutional Aplastic Anemia – Diamond-Blackfan Anemia)
LOINC Code 81258-7 (DNA sequencing for specified gene mutation)
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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