Test Price
2,800 AED✅ Home Collection Available
IRF8 Gene Immunodeficiency Type 32B, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Precision genetic testing for IRF8-related Mendelian susceptibility to mycobacterial disease (MSMD). Our ISO 9001:2015-certified laboratory employs NGS technology with 99.9% diagnostic sensitivity for single nucleotide variants and indels. We provide VIP mobile phlebotomy and temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM, with post-test clinical guidance from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403). Fully compliant 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.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the IRF8 gene to detect pathogenic variants causing autosomal recessive immunodeficiency type 32B, characterized by monocyte and dendritic cell deficiency, leading to severe mycobacterial infections. The test is critical for early diagnosis, genetic counseling, and guiding treatment such as hematopoietic stem cell transplantation.
| Feature | Our Test (IRF8 NGS Panel) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% (SNV/indel confirmed by Sanger) | 95–98% for targeted region |
| Methodology | NGS + confirmatory Sanger; ACMG guidelines | WES, bioinformatics-dependent |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403 emphasizes: “A positive IRF8 variant must be correlated with clinical phenotype and immunological workup; never base treatment solely on genetic results. As a compassionate physician, I urge patients to discuss all findings with a clinical geneticist or immunologist for a holistic care plan. Genetic testing provides critical data but does not replace comprehensive clinical assessment.”
Advisory: Medication Continuity
Do not discontinue prescribed medication, including antimicrobial or immunomodulatory therapy, without consulting your treating physician. Genetic test results should complement, not replace, your current treatment plan.
Exclusion Criteria & Emergency Red Flags
- Uncontrolled bleeding diathesis or coagulopathy precluding safe venipuncture.
- Active severe infection requiring immediate medical attention (phlebotomy may be deferred).
- ER Red Flags: High fever (>39°C), severe respiratory distress, hypotension, or signs of sepsis — seek emergency care immediately. This test does not replace urgent clinical evaluation.
Patient FAQ & Clinical Guidance
1. What does the IRF8 gene test detect?
The test identifies pathogenic variants in the IRF8 gene that impair monocyte and dendritic cell development, causing autosomal recessive immunodeficiency type 32B and severe mycobacterial infections.
2. Who should consider this test?
Individuals with recurrent mycobacterial infections, persistent monocytopenia, or a family history of primary immunodeficiency should undergo this genetic test for definitive diagnosis and family screening.
3. How long until I receive results?
Results are typically available within 3 to 4 weeks, accompanied by comprehensive variant interpretation and telephonic genetic counselling to guide clinical decision-making.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed 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 under strict confidentiality protocols. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | IRF8 Gene Immunodeficiency Type 32B, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or one drop blood on FTA card |
| Methodology Used | NGS (Next Generation Sequencing) with confirmatory Sanger sequencing |
| ICD-10-CM Code | D81.89, Z14.01, Z15.09 |
| LOINC Code | 94745-0 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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