RPS7 Gene Diamond‑Blackfan Anemia Type 8 Genetic Test in UAE | 2800 AED

Name: RPS7 Gene Diamond-Blackfan Anemia Type 8 Genetic Test
Brand: DNA Labs UAE
SKU: DX-LAB-3275
Price: 2800 AED
Availability: InStock

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015-accredited Next-Generation Sequencing (Cert: INT/EGQ/2509DA/3139).

Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM across all Emirates.

Clinical Guidance: Telephonic Post-Test Result Interpretation by a DHA-licensed Consultant Medical Genetics specialist.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The RPS7 NGS test identifies pathogenic variants in the RPS7 gene, confirming Diamond-Blackfan anemia type 8 – a congenital pure red cell aplasia. This 2800 AED panel is processed with full clinical counselling and cold-chain logistics, delivering high-confidence molecular diagnosis for patients and families.

Feature	Our Test (NGS)	Closest Alternative (Sanger Sequencing)
Precision	>99% analytical sensitivity for all coding exons and splice sites	~95% for known point mutations; misses copy number variants
Method	Massively Parallel Next-Generation Sequencing (NGS) on Illumina® platform	Sanger dye-terminator sequencing of individual amplicons
Turnaround	3–4 weeks from sample receipt	4–6 weeks
Price	2800 AED	~2500 AED

Physician Insight & Safety Protocols

“A confirmed pathogenic variant in RPS7 establishes the molecular diagnosis of Diamond-Blackfan anemia type 8, yet comprehensive hematologic management must integrate bone marrow morphology, red cell adenosine deaminase levels, and the full clinical phenotype. Early genetic confirmation empowers families to understand autosomal dominant recurrence risks and enroll in systematic surveillance for late-onset malignancies including osteosarcoma. Treatment decisions involving corticosteroids, chronic transfusion programs, or hematopoietic stem cell transplantation require multidisciplinary planning with a medical geneticist and pediatric hematologist.”

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

Clinical Advisory & Safety Information

Important Clinical Precautions

Genetic test results should never prompt self-directed changes to prescribed therapies. Continue all medications including corticosteroids exactly as directed by your treating physician. This molecular analysis complements but does not replace acute clinical evaluation.

Exclusion Criteria & Emergency Indicators

Recent allogeneic blood transfusion (<4 weeks) may introduce donor DNA – request a buccal swab kit as an alternative specimen.
Severe pallor, dyspnoea at rest, chest pain, or signs of heart failure require immediate emergency department attendance and should not be delayed for genetic testing.

Patient FAQ & Clinical Guidance

1. What does the RPS7 gene test diagnose?

Snippet: This NGS test detects RPS7 gene mutations causing Diamond-Blackfan anemia type 8, a rare inherited bone marrow failure syndrome characterized by pure red cell aplasia.

The test sequences the entire coding region and splice junctions of the RPS7 gene, identifying point mutations, small insertions/deletions, and copy number variants that confirm the molecular basis of Diamond-Blackfan anemia type 8. It is indicated for patients with congenital hypoplastic anemia, elevated erythrocyte adenosine deaminase activity, macrocytosis, and a family history suggestive of DBA.

2. How long do results take?

Snippet: Results are delivered in 3 to 4 weeks after sample receipt, ensuring thorough sequencing analysis and clinical interpretation.

The 3-4 week turnaround includes DNA extraction, NGS library preparation, massively parallel sequencing on an Illumina platform, bioinformatics analysis according to ACMG/AMP variant classification guidelines, and a comprehensive clinical report with therapeutic recommendations. Expedited processing may be available upon request for urgent clinical scenarios.

3. Is home sample collection available in the UAE?

Snippet: Yes, we offer VIP mobile phlebotomy and cold-chain home collection across all Emirates, 8 AM to 11 PM daily.

Our DHA-licensed phlebotomists visit your home or office with a validated temperature-controlled transport kit. We collect 2–3 mL of whole blood in EDTA tubes or a buccal swab if transfusion-free DNA is required. Insurance pre-approval is facilitated through WhatsApp and home collection can be scheduled within 2–4 hours of request.

UAE Regulatory & Data Privacy Adherence

Data Protection & Healthcare Compliance Framework

This genetic test is performed in full compliance with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) ensuring all patient genetic information is encrypted, access-controlled, and processed lawfully. Additionally, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs the secure transmission and storage of digital health records. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Corporate Lab Branding: DNA Labs UAE | DHA Facility License Number: 1143 | Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

Clinical & Logistical Metadata

Test Name	RPS7 Gene Diamond-Blackfan Anemia Type 8 Genetic Test (NGS)
Price (AED)	2800 AED
Turnaround Time	3–4 weeks from sample receipt
Sample Type / Matrix	Peripheral whole blood (2–3 mL in EDTA) or buccal swab
Methodology Used	Massively Parallel Next-Generation Sequencing (NGS) – Illumina platform, whole coding region and splice site analysis
ICD-10-CM Code	D61.0 (Constitutional aplastic anemia), Z31.430 (Genetic counseling), Z15.89 (Genetic susceptibility to other disease)
LOINC Code	81241-1 (RPS7 gene mutation analysis in Blood or Tissue by Molecular genetics method)
DHA Facility License & Laboratory Address	DHA Facility License Number: 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| Corporate Lab: DNA Labs UAE