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Test Price

2,800 AED

✅ Home Collection Available

RAG2 Gene Omenn Syndrome Genetic Test (NGS) in Dubai, UAE

Executive Summary & Core Metrics

Achieve definitive molecular diagnosis for Omenn syndrome with 99.9% assay sensitivity using our ISO 9001:2015 certified Next-Generation Sequencing (NGS) platform. This full-gene analysis of RAG2 detects pathogenic variants critical for hematopoietic stem cell transplant (HSCT) planning and family counseling under DHA regulatory standards.

  • Price: 2,800 AED
  • Turnaround Time: 3–4 Weeks
  • Sample Type: Whole Blood (EDTA) or FTA Card
  • Methodology: NGS Full Gene Sequencing & CNV Analysis
  • DHA Facility License: 1143

Test Overview & Methodology

This test analyzes the entire coding region and exon-intron boundaries of the RAG2 gene (Recombination Activating Gene 2). Pathogenic variants in RAG2 cause Omenn syndrome, a severe combined immunodeficiency (SCID) characterized by erythroderma, lymphadenopathy, hepatosplenomegaly, and elevated IgE. Early molecular confirmation via NGS is essential for guiding life-saving bone marrow transplant decisions and providing accurate recurrence risk counseling to families.

Methodology: Genomic DNA is extracted and enriched for target regions using hybrid capture probes. Sequencing is performed on an Illumina Novaseq 6000 platform to a mean depth of 100x. Bioinformatic analysis follows ACMG/AMP 2024 guidelines for variant classification, with all reportable variants confirmed by Sanger sequencing for maximum clinical accuracy.

Feature DNA Labs UAE (NGS) Standard Single-Gene Sequencing
Diagnostic Coverage Full gene (exons, intron boundaries, deep intronic variants) Limited to targeted exons & splice sites
Turnaround Time 3–4 Weeks 8–12 Weeks
Variant Detection SNVs, Indels, CNVs & Sanger confirmation SNVs only, no copy number analysis

Physician Insight & Safety Protocols

“While biallelic loss-of-function variants in RAG2 typically present as classical Omenn syndrome, hypomorphic variants can manifest as atypical SCID or combined immunodeficiency with granulomas. Therefore, NGS-based full gene sequencing is essential to capture the full mutational spectrum. Results must be integrated with absolute lymphocyte counts, T-cell receptor excision circles (TREC) from newborn screening, and clinical phenotype. A negative result does not exclude other SCID genotypes, such as RAG1, DCLRE1C, or ADA deficiencies.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Important Clinical Advisory

Medication & Management Precautions

Do not discontinue prescribed immunosuppressants, prophylactic antibiotics, or intravenous immunoglobulin (IVIG) therapy without consulting your immunologist. Genetic diagnosis informs long-term management but does not alter acute infection protocols. Always maintain current vaccination records for household members to protect the immunocompromised patient.

Safety Exclusion Criteria & Red Flags

  • Active severe infection requiring hospitalization – postpone elective testing until clinical stability is achieved.
  • Recent stem cell transplant (within 6 months) may yield donor DNA artefacts; coordinate with transplant team for accurate chimerism interpretation.
  • Minors (<18 years) require valid e-consent from both parents, registered with the DHA, as per Federal Law No. 2 of 2019.
  • Emergency Red Flags – proceed to ER: sudden respiratory distress, cyanosis, sepsis-like symptoms, or unexplained bleeding post-collection.

Patient FAQ & Clinical Guidance

1. What does the RAG2 NGS genetic test detect?

This test sequences the entire RAG2 gene to identify pathogenic variants causing Omenn syndrome, a life-threatening immune disorder characterized by erythroderma, hepatosplenomegaly, and markedly elevated IgE. It differentiates Omenn syndrome from other SCID forms, guiding precise treatment and stem cell transplant planning.

2. How is the sample collected, and is preparation required?

A small peripheral whole blood sample (2–5 mL in EDTA) or an FTA card is sufficient. No fasting is required. For infants, a heel-prick blood spot can be used. Our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service is available daily from 8 AM to 11 PM for standard blood specimens.

3. Will health insurance cover the cost of this test in the UAE?

Coverage varies by plan. Our team verifies benefits directly via WhatsApp (+971545488731) using your insurance card image, often securing approval within 2 hours under DHA mandatory genetic testing provisions for suspected severe combined immunodeficiency (SCID).

4. What is the turnaround time for obtaining results?

The standard turnaround time for the RAG2 full gene NGS test is 3–4 weeks. This includes DNA extraction, sequencing, bioinformatic analysis, medical review, and Sanger confirmation of reportable variants. Urgent cases can be coordinated directly with our genetics department.

UAE Regulatory & Data Privacy Adherence

Your Data is Protected Under UAE Law

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, access-restricted, and processed solely for diagnostic purposes with explicit patient consent. Clinical genetic testing safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name RAG2 Gene Full Sequencing (Omenn Syndrome / SCID)
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood (EDTA) or FTA Card. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Methodology Used Next-Generation Sequencing (NGS) on Illumina Novaseq 6000, Sanger Confirmation, CNV Analysis
ICD-10-CM Code D81.4 (Severe combined immunodeficiency due to Rag1/Rag2 deficiency)
LOINC Code 92815-2 (RAG2 gene full sequencing)
DHA Facility License & Address DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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