Test Price
2,800 AEDโ Home Collection Available
RAG2 Gene Combined Cellular and Humoral Immune Defects with Granulomas Genetic Test โ 2,800 AED
Executive Summary & Core Metrics
This comprehensive genetic test evaluates the RAG2 gene using Next-Generation Sequencing to detect pathogenic mutations causing combined cellular and humoral immune defects with granulomatous manifestations. We guarantee 99.9% diagnostic sensitivity through our ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139) under Dubai Health Authority supervision.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM daily).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance by DHA-licensed genetic counsellors.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RAG2 Gene Genetic Test is a high-resolution diagnostic assay that screens the entire coding region of the Recombination Activating Gene 2 using Next-Generation Sequencing technology to identify pathogenic variants linked to combined cellular and humoral immune deficiencies with granulomatous manifestations. Designed for clinical diagnostic workup, family screening, and research applications, this test delivers definitive molecular confirmation with a turnaround time of 3 to 4 weeks.
Pre-Test Requirements & Genetic Counselling
Prior to sample collection, patients must provide a detailed clinical history documenting any prior immune deficiency diagnoses, recurrent infections, granulomatous skin lesions, or family history of primary immunodeficiency. A mandatory genetic counselling session is required to construct a comprehensive pedigree chart and ensure informed consent in full compliance with UAE PDPL (Federal Decree-Law No. 45 of 2021) and Federal Law No. 2 of 2019 concerning the use of ICT in health fields.
Accepted Sample Types: Whole Blood (EDTA tube), Extracted DNA (minimum 1 ยตg), or One Drop of Blood on FTA Card. All samples are transported via ISO-certified cold-chain logistics at 2โ8ยฐC.
| Feature | Our Test โ RAG2 NGS (DHA-Licensed) | Closest Alternative โ Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | NGS โ Full gene coverage including deep intronic regions | Sanger Sequencing โ Limited to targeted exonic regions |
| Diagnostic Sensitivity | 99.9% โ Detects SNVs, indels, and copy number variants | ~95% โ May miss large deletions, mosaicism, deep intronic variants |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| UAE Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | DHA Facility License: 1143 | Variable; may lack UAE-specific regulatory approval |
| Post-Test Support | Telephonic Clinical Guidance + Genetic Counselling Referral | Often limited to written report only |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I emphasize that the RAG2 NGS test provides invaluable molecular confirmation for suspected combined immunodeficiency syndromes. However, a positive genetic finding must always be correlated with the patient's clinical phenotype, immunological laboratory parameters, and family history before establishing a definitive diagnosis. I strongly advise all patients and families to engage in pre-test and post-test genetic counselling to fully understand the implications of the results."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Clinical Notice: Do not discontinue any prescribed medication, including immunosuppressants, corticosteroids, or antimicrobial prophylaxis, without consulting your treating physician. Genetic test results do not replace ongoing clinical management, and abrupt medication cessation may precipitate severe disease flares or life-threatening infections in immunocompromised individuals.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed If)
- Patient has received a blood transfusion within the last 14 days (may confound germline DNA analysis).
- Patient is currently hospitalized for an active severe systemic infection (defer testing until clinically stable).
- Minors without valid parental or legal guardian consent as mandated by UAE child protection statutes.
- Inability to provide informed consent for genetic testing per UAE PDPL data privacy regulations.
- Patient is on experimental gene therapy that may alter native DNA signatures (consult laboratory before collection).
Emergency Red Flags โ Seek Immediate Medical Attention
- Fever exceeding 38.5ยฐC persisting beyond 24 hours, especially with rigors or confusion.
- Rapidly progressive skin lesions with ulceration, necrosis, or purulent discharge.
- Respiratory distress โ shortness of breath, chest pain, or oxygen saturation below 92%.
- Signs of severe combined immunodeficiency: failure to thrive in infants, persistent oral thrush, or recurrent invasive infections.
- Acute abdominal pain with distension, potentially indicating granulomatous enterocolitis.
Patient FAQ & Clinical Guidance
1. What is the RAG2 gene and why is this NGS test clinically important for my health?
Snippet: RAG2 Genetic Testing identifies disease-causing mutations in the RAG2 gene linked to combined immunodeficiency with granulomas.
This test provides a definitive molecular diagnosis by analyzing the full coding sequence of the RAG2 gene, which encodes a critical enzyme for V(D)J recombination essential for adaptive immune system development. Pathogenic variants in RAG2 disrupt both T-cell and B-cell maturation, leading to a spectrum of disorders ranging from severe combined immunodeficiency (SCID) to Omenn syndrome and combined cellular and humoral immune defects with granulomatous inflammation affecting the skin, bones, and internal organs. Identifying the specific mutation guides targeted clinical management, hematopoietic stem cell transplant eligibility, and family planning decisions.
2. How is the sample collected and what is the turnaround time for receiving results?
Snippet: A single blood draw via VIP mobile phlebotomy with ISO-certified cold-chain transport ensures safe sample delivery.
Our DHA-licensed phlebotomy team performs sample collection at your home, hospital, or clinic between 8:00 AM and 11:00 PM, seven days a week. The procedure requires only a standard venous blood draw (3โ5 mL in an EDTA tube), a buccal swab, or a single drop of blood applied to an FTA card for DNA stabilization. Samples are immediately placed in ISO-certified temperature-controlled transport containers and delivered to our molecular diagnostics laboratory. The complete NGS workflow requires 3 to 4 weeks. Results are released through our secure patient portal with an option for telephonic clinical guidance.
3. What do my results mean and who will explain them to me?
Snippet: Pathogenic RAG2 variants indicate combined immunodeficiency risk, with expert clinical guidance provided for result interpretation and management planning.
Your report will categorize identified variants according to ACMG/AMP guidelines as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign. A positive finding (Pathogenic or Likely Pathogenic variant) confirms a molecular diagnosis of RAG2-related immunodeficiency and should prompt immediate referral to a clinical immunologist for management planning, which may include immunoglobulin replacement therapy, antimicrobial prophylaxis, or evaluation for hematopoietic stem cell transplantation. A DHA-licensed genetic counsellor will provide a dedicated telephonic consultation to explain your results in clear, actionable terms, address your concerns, and coordinate follow-up care with your referring physician. Family cascade testing is recommended for all first-degree relatives of mutation-positive individuals.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 (PDPL): All genetic testing and genomic data handling strictly adhere to UAE federal mandates on genetic privacy, informed consent, and data sovereignty. Patient genomic data is encrypted, stored on secure servers within UAE jurisdiction, and never shared with third parties without explicit written authorization.
- Federal Law No. 2 of 2019: Compliance with the law concerning the use of information and communication technology in health fields, ensuring secure electronic health records and data exchange for genetic test results.
- Federal Decree-Law No. 4 of 2016: Clinical testing safety and patient consent are governed by the Medical Liability law, guaranteeing that all procedures meet the highest standards of care.
- ISO 9001:2015 Certification: Our laboratory holds active ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139), ensuring internationally recognized quality management systems for diagnostic accuracy and operational excellence.
- DHA Facility License: 1143 โ Licensed and audited by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | RAG2 Gene Combined Cellular and Humoral Immune Defects with Granulomas Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA (min 1 ยตg), or One Drop of Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coverage including deep intronic regions |
| ICD-10-CM Code | D81.32 (Severe combined immunodeficiency due to RAG2 deficiency) |
| LOINC Code | 48707-5 (Genetic analysis of RAG2 gene) |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians