Test Price
2,800 AED✅ Home Collection Available
IL1RN Gene Mutation Analysis (DIRA) – Genetic Test in UAE
Executive Summary & Core Metrics
Our IL1RN gene sequencing test provides definitive diagnosis for Deficiency of Interleukin-1 Receptor Antagonist (DIRA) with >99.9% analytical sensitivity. The test is performed under ISO 15189:2022 accreditation using targeted next-generation sequencing (NGS) with full exon coverage, splice site analysis, and copy number variation (CNV) detection.
Test Overview & Methodology
The IL1RN gene codes for the interleukin-1 receptor antagonist (IL-1Ra), a key anti-inflammatory protein. Loss-of-function mutations cause Deficiency of Interleukin-1 Receptor Antagonist (DIRA), a severe autoinflammatory syndrome that presents in infancy with sterile multifocal osteomyelitis, periostitis, pustular dermatosis, and systemic inflammation. Early genetic confirmation enables targeted therapy with anakinra and prevents irreversible bone damage.
Our test covers the entire coding region, exon-intron boundaries, and the 5'/3' UTR regions. CNV analysis detects large deletions or duplications missed by standard methods.
| Feature | Our IL1RN DIRA NGS Test | Standard Autoinflammatory Panel |
|---|---|---|
| Methodology | Targeted NGS (Illumina NovaSeq) + CNV analysis + full exon coverage | Sanger or limited NGS without CNV detection |
| Turnaround Time | 3–4 weeks | 4–8 weeks |
| Clinical Sensitivity | >99% for all known IL1RN mutations | ~85% (may miss deep intronic variants or CNVs) |
| Post-Test Support | Genetic counsellor tele-consultation + DHA-certified report | Written report only |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognise the urgency of diagnosing DIRA in infants presenting with sterile osteomyelitis and pustular rash. This genetic test provides definitive molecular confirmation, but it must be interpreted together with clinical features and inflammatory markers. Any treatment decisions must be supervised by a specialist; never stop anakinra without medical advice.”
Safety Advisory
Do not stop prescribed biologic therapy without direct consultation with your treating physician.
Abrupt cessation of IL-1 blockers (e.g., anakinra, canakinumab) may precipitate a severe inflammatory rebound.
Exclusion Criteria & Emergency Guidance
- This test cannot be performed on patients undergoing active chemotherapy (DNA instability).
- Home collection is not available for individuals with active fever >38.5°C or suspected COVID-19 infection.
- Seek emergency care immediately if the patient develops acute bone pain with high fever, respiratory distress, or signs of septic shock.
Patient FAQ & Clinical Guidance
1. How accurate is the IL1RN NGS test for diagnosing DIRA in infants?
The test provides greater than 99% analytical sensitivity and specificity, identifying all known pathogenic mutations across the IL1RN gene including deep intronic variants and large copy number changes that standard panels miss. Confirmatory results are considered definitive.
2. Can I use a single drop of blood on an FTA card for this test?
Yes, our validated protocol accepts one drop of blood on an FTA card as a stable DNA source, enabling painless collection from neonates. DNA is extracted and analysed with the same high-coverage NGS pipeline.
3. Is a genetic counselling session required before the test?
A pre-test genetic counselling session is mandatory for all UAE patients to draw a pedigree chart and obtain informed consent, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Genetic Testing regulations. Your appointment includes this complimentary service via secure video call.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies with all applicable UAE federal laws for health data protection and genetic testing:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the processing and confidentiality of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring informed consent and medical responsibility.
- All genetic reports are encrypted, access-controlled, and retained per DHA record-keeping requirements.
Clinical & Logistical Metadata
| Test Name | IL1RN Gene Mutation Analysis (DIRA) – Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA) or FTA card |
| Methodology Used | Targeted NGS with CNV analysis (Illumina NovaSeq) |
| ICD-10-CM Code | D89.89 (Other specified disorders involving the immune system) |
| LOINC Code | 81247-9 (IL1RN gene mutation analysis) |
| DHA Facility License & Laboratory Address | License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians