Test Price
2,800 AED✅ Home Collection Available
IRAK4 Deficiency Genetic Test (NGS) | 2,800 AED
Executive Summary & Core Metrics
The IRAK4 Deficiency Genetic Test employs next‑generation sequencing (NGS) on the Illumina platform at 1000× depth to detect pathogenic variants in the IRAK4 gene. This confirmatory molecular diagnosis is essential for identifying autosomal recessive primary immunodeficiency in patients presenting with recurrent pyogenic infections. The test is performed at DNA Labs UAE under DHA Facility License No. 1143 and conforms to ISO 9001:2015 quality standards. Each report includes ACMG‑based variant classification, clinical correlation, and a post‑result telephonic consultation with a DHA‑licensed genetics expert.
✅ Accuracy Guarantee
99.9% diagnostic sensitivity and specificity via ISO‑accredited NGS processing with copy‑number variant detection.
🚑 Premium Logistics
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
📞 Clinical Guidance
Post‑test telephonic interpretation by DHA‑licensed consultant medical geneticist within 72 hours of report release.
💳 Insurance
Direct Billing Verification via WhatsApp. +971 54 548 8731
Test Overview & Methodology
The IRAK4 Deficiency Genetic Test screens the entire coding region and splice sites of the IRAK4 gene using NGS technology. This approach identifies single‑nucleotide variants, small insertions/deletions, and copy‑number alterations with high sensitivity. Unlike conventional Sanger sequencing, NGS provides comprehensive coverage at superior depth, reducing the risk of false‑negative results in patients with strong clinical suspicion of primary immunodeficiency.
| Feature | Our Test (NGS, ISO‑Accredited) | Closest Alternative (Sanger Sequencing / Limited Panels) |
|---|---|---|
| Precision | Whole‑gene sequencing with copy‑number variant detection. | Single‑exon analysis, may miss large deletions. |
| Methodology | Next‑Generation Sequencing (Illumina platform, 1000× depth). | Sanger sequencing – lower throughput and no CNV detection. |
| Turnaround Time | 3–4 weeks. | Often 6–8 weeks. |
| Clinical Reporting | Full ACMG‑based variant classification with clinical correlation. | Variant‑only report without structured interpretation. |
Physician Insight & Safety Protocols
“IRAK4 deficiency frequently manifests in early childhood with severe, recurrent pyogenic infections, particularly pneumococcal disease. A negative NGS result does not definitively exclude the diagnosis if clinical suspicion remains elevated; molecular findings must always be correlated with immunological phenotyping and family segregation analysis.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Advisory: Medication Continuity
⚠️ Important Medication Warning:
Do not discontinue prescribed immunoglobulin replacement therapy or prophylactic antibiotics without direct consultation with your managing physician. This genetic test provides diagnostic confirmation but does not replace acute clinical management or ongoing treatment decisions.
Exclusion Criteria & Emergency Red Flags
- Active systemic infection requiring immediate hospitalization – postpone elective genetic sampling until clinical stability is achieved.
- Patients with a known contraindication to venipuncture or severe coagulation disorder (consider FTA card dried blood spot as alternative).
- ER Red Flag: Fever > 39°C with signs of sepsis in a child with suspected IRAK4 deficiency – seek emergency care immediately.
- Pregnancy: Genetic testing does not pose direct risk to the fetus, yet pre‑test counseling must address potential incidental findings.
- Minors require informed consent from a legal guardian as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. How does the IRAK4 NGS test determine whether my child’s recurrent infections have a genetic cause?
This test directly reads the entire IRAK4 gene to identify disease‑causing mutations that explain recurrent pyogenic infections. It distinguishes true immunodeficiency from common infectious mimics, providing a definitive molecular diagnosis that guides lifelong prophylactic and therapeutic decisions.
2. Can a small finger‑prick blood sample on an FTA card be used instead of a venipuncture tube?
Yes, a single drop of blood on an FTA card is fully validated and provides DNA stable for NGS analysis. Our home collection team can assist with either method, ensuring less discomfort for infants and young children.
3. What happens after the report is issued; will I receive treatment guidance?
Within 72 hours of report release, a DHA‑licensed consultant medical geneticist will call you to interpret results and outline evidence‑based next steps. This tele‑consultation covers prognosis, prophylactic antibiotic regimens, immunoglobulin therapy options, and recommendations for family cascade screening.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance
DNA Labs UAE operates in full compliance with 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‑controlled, and processed exclusively within UAE‑based secure infrastructure. Clinical testing safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. No genetic information is shared with third parties without explicit written consent from the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | IRAK4 Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Venipuncture or FTA Card Dried Blood Spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina Platform, 1000× Depth |
| ICD-10-CM Code | D82.9 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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