Test Price
2,800 AED✅ Home Collection Available
IL12RB2 Genetic Testing (NGS) for Mendelian Susceptibility to Mycobacterial Disease in UAE | 2,800 AED
Executive Summary & Core Metrics
Core Metrics Summary
- 99.9% Diagnostic Sensitivity — ISO 9001:2015 accredited NGS processing on the Illumina® platform with complete coverage of all IL12RB2 exons and splice sites.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection — Available daily from 8 AM to 11 PM. Sample types include whole blood, extracted DNA, or one-drop FTA card (paediatric-friendly).
- Post-Test Clinical Guidance — Complimentary telephonic interpretation session with a DHA-licensed Consultant Medical Geneticist. Your report is reviewed by Lina Osama Zaki Quteineh before release.
- Direct Insurance Billing — Send your insurance card via WhatsApp to +971 54 548 8731 for instant coverage verification.
Test Overview & Methodology
The IL12RB2 gene test uses next-generation sequencing (NGS) to identify germline mutations responsible for Mendelian Susceptibility to Mycobacterial Disease (MSMD), a primary immunodeficiency predisposing to recurrent, severe atypical mycobacterial infections starting in childhood. This targeted analysis provides molecular confirmation that guides prophylactic treatment and clinical management.
| Feature | Our IL12RB2 NGS Test | Closest Alternative |
|---|---|---|
| Methodology | Targeted NGS (Illumina® NovaSeq™) with 100% coverage of all IL12RB2 exons ±20 bp intronic splice sites | Sanger sequencing (lower resolution, limited to single-exon queries) |
| Diagnostic Sensitivity | 99.9% (validated against ClinVar & gnomAD v4) | ~95% (may miss deep intronic or GC-rich variants) |
| Turnaround Time | 3–4 weeks (expedited 10-day option available) | 6–8 weeks |
| Sample Flexibility | Whole blood, extracted DNA, or one-drop FTA card (no cold-chain for FTA) | Whole blood only, cold-chain mandatory |
| Price | 2,800 AED (insurance accepted) | 3,200–4,500 AED |
Physician Insight & Safety Protocols
"Having managed numerous families with MSMD, I understand the anxiety surrounding recurrent infections. This test provides molecular confirmation that empowers precise treatment—but a negative result does not exclude other immunodeficiencies. Please do not alter prophylactic antibiotics without consulting your immunologist."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions
Do not discontinue prescribed medication without consulting your doctor. Genetic results must be integrated with immunological functional assays for comprehensive clinical decision-making. Pre-test genetic counselling is strongly recommended.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Test not indicated for routine screening in asymptomatic adults without family history. Pre-test genetic counselling is mandatory.
- Avoid if: Patient is currently hospitalized for an acute severe infection—defer until stable.
- Emergency Red Flags: If the individual develops high fever with disseminated abscesses, respiratory distress, or meningeal signs while awaiting results, seek immediate medical attention—do not wait for the genetic report.
- Minors: Both parents or legal guardian must provide informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the IL12RB2 gene test used for?
The IL12RB2 NGS test identifies inherited mutations that cause Mendelian Susceptibility to Mycobacterial Disease (MSMD), a rare primary immunodeficiency leading to severe, recurrent atypical mycobacterial infections, often starting in childhood. The test enables accurate diagnosis and guides prophylactic management.
2. How should I prepare for the test, and which sample type is easiest for my child?
No fasting is required. The most child-friendly option is a one-drop blood sample on a DNA FTA card—no cold-chain needed, and our home visit phlebotomist will assist painlessly. Whole blood and extracted DNA are also accepted.
3. When will I receive my results, and who will explain them to me?
Results are delivered within 3–4 weeks. A DHA-licensed Consultant Medical Geneticist will schedule a telephonic consultation to interpret your report and coordinate with your immunologist for a management plan.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic data is encrypted and stored within UAE borders, ensuring strict confidentiality and data sovereignty.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Digital health records and telemedicine consultations comply with federal ICT security standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent protocols and clinical safety standards are strictly followed for all genetic testing procedures.
- ISO 9001:2015 Certified Quality Management System (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | IL12RB2 Genetic Testing (NGS) for Mendelian Susceptibility to Mycobacterial Disease |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited 10-day option available) |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (paediatric-friendly) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina® Platform |
| ICD-10-CM Code | D81.3, Z15.09, Z14.8 |
| LOINC Code | 96603-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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