Test Price
2,800 AED✅ Home Collection Available
IL1RN Gene Mutation Analysis (DIRA) – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين IL1RN للكشف عن متلازمة نقص مضاد مستقبل إنترلوكين-1 (DIRA) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – تشمل الخدمة ضمان الدقة والتوصيل المنزلي والإرشاد السريري المعتمد من هيئة الصحة بدبي.
- ✔ 99.9% Diagnostic Sensitivity via ISO 15189:2022 accredited NGS sequencing, ensuring every IL1RN mutation (including deep intronic variants) is captured.
- ✔ Hospital-Grade Home Collection: ISO-certified cold-chain phlebotomy services (8 AM–11 PM) with VIP mobile team. Contact via WhatsApp +971 54 548 8731.
- ✔ Telephonic Post-Test Clinical Guidance: Complimentary result interpretation session with a DHA-licensed clinical geneticist.
- ✔ Direct Insurance Billing: Pre-approval verification via WhatsApp at +971 54 548 8731.
يضمن هذا الفحص الدقيق تشخيصاً جينياً شاملاً لمتلازمة DIRA النادرة، مع الالتزام الكامل بقوانين الخصوصية الصحية الإماراتية لعام 2026.
What is the IL1RN Gene and DIRA?
The IL1RN gene encodes the interleukin-1 receptor antagonist (IL-1Ra), a critical anti-inflammatory protein. Mutations cause Deficiency of Interleukin-1 Receptor Antagonist (DIRA), a severe autoinflammatory syndrome presenting in infancy with sterile multifocal osteomyelitis, periostitis, and pustular rash. This Genetic Test screens the entire coding region, splice sites, and copy number variations to identify pathogenic variants, enabling precise diagnosis and early treatment with anakinra.
This test is indicated for patients with suspected DIRA, differential diagnosis with SAPHO or CRMO, and for carrier screening in at-risk families. Early genetic confirmation prevents irreversible bone damage and systemic inflammation.
| Feature | Our IL1RN DIRA NGS Test | Standard Gene Panel (Autoinflammatory) |
|---|---|---|
| Methodology | Targeted NGS with CNV analysis & full exon coverage (Illumina NovaSeq) | Sanger sequencing or limited NGS panel without CNV detection |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks |
| Clinical Sensitivity | >99% for all known IL1RN mutations | ~85% (may miss deep intronic/CNV) |
| Post-Test Support | Genetic counsellor tele-consultation + DHA-certified report | Written report only |
Physician Insight & Safety Protocol
“As a Consultant Dermatologist and Clinical Geneticist, I understand the anxiety surrounding a child with recurrent bone pain and skin pustules. This genetic test offers definitive confirmation of DIRA, but it must be interpreted within the complete clinical context. Never discontinue anakinra or anti-inflammatory therapy without medical supervision. – Dr. PRABHAKAR REDDY, DHA License No: 61713011.”
Safety Warning & Medication Precaution
Do not discontinue prescribed medication without consulting your doctor.
Abrupt cessation of anti-IL-1 biologics (e.g., anakinra, canakinumab) may trigger a severe inflammatory flare.
Exclusion Criteria & ER Red Flags
- This test cannot be performed on a patient undergoing active chemotherapy (DNA instability).
- Home collection not available for individuals with active fever >38.5°C or suspected COVID-19.
- Seek emergency care immediately if you develop acute bone pain with high fever, respiratory distress, or septic shock symptoms.
Patient FAQ & Clinical Guidance
Q1: How accurate is the IL1RN NGS test for diagnosing DIRA in infants?
This test provides greater than 99% analytical sensitivity and specificity, identifying all known pathogenic mutations across the IL1RN gene, including rare structural variants that standard panels miss.
يتمتع هذا الاختبار بحساسية تشخيصية تتجاوز 99%، ويكشف جميع الطفرات المسببة لمتلازمة DIRA حتى النادرة منها، مما يضمن دقة التشخيص المبكر لدى الرضع.
Q2: 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. The DNA is extracted and analyzed with the same high-coverage NGS pipeline.
نعم، يمكن إرسال قطرة دم واحدة على بطاقة FTA، ويتم استخلاص الحمض النووي وتحليله بنفس الدقة المعملية العالية.
Q3: Is a genetic counselling session required before the test?
A pre- genetic counselling session is mandatory for all UAE patients to draw a pedigree chart and obtain informed consent, in compliance with UAE Genetic Testing Law (Federal Decree-Law 41 of 2024, Art. 87). Your appointment includes this complimentary service via secure video call.
جلسة الاستشارة الوراثية قبل الفحص إلزامية وفق القانون الإماراتي رقم 41 لعام 2024، وتشمل رسم شجرة العائلة وتوثيق الموافقة المستنيرة.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians