Test Price
2,800 AEDโ Home Collection Available
IKBKG Gene Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
โ Clinical-Grade Precision: 99.9% Diagnostic Sensitivity (NGS with >50ร depth), ISO 9001:2015 Certified.
โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
โ Expert Guidance: Complimentary Telephonic Post-Test Clinical Consultation with a Consultant Medical Geneticist.
โ Insurance: Direct Billing Verification โ WhatsApp +971 54 548 8731.
This assay provides definitive molecular confirmation of pathogenic IKBKG variants, enabling precise diagnosis of recurrent invasive pneumococcal disease type 2, Incontinentia Pigmenti, and X-linked EDA-ID immunodeficiency syndrome.
Test Overview & Methodology
This next-generation sequencing (NGS) test comprehensively analyses the entire IKBKG gene to detect pathogenic variants responsible for recurrent invasive pneumococcal disease type 2, Incontinentia Pigmenti (IP), and X-linked EDA-ID immunodeficiency. Full gene coverage with >50ร mean depth ensures detection of single nucleotide variants, small insertions/deletions, and copy number alterations across all coding exons and flanking intronic regions (ยฑ10 bp).
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Sanger) |
|---|---|---|
| Method | Massively Parallel NGS (Full Gene Sequencing) | Targeted Sanger Sequencing (Selected Exons) |
| Analytical Sensitivity | >99.9% (all coding regions ยฑ10 bp) | ~88% (only known hotspots) |
| Turnaround Time | 3โ4 Weeks | 2โ3 Weeks |
| Price (AED) | 2800 | ~2500 |
Physician Insight & Safety Protocols
โFor families living with the uncertainty of recurrent invasive pneumococcal infections, each episode carries significant clinical and emotional weight. A precise molecular diagnosis through comprehensive IKBKG sequencing not only clarifies the underlying immune defect but also guides targeted immunoprophylaxis and long-term surveillance. I emphasize that all genetic results must be contextualized within the full clinical picture โ no laboratory finding replaces the integrated judgment of the treating physician.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Medication Safety
Medication Warning
Do not discontinue or adjust any prescribed medication, including prophylactic antibiotics or immunoglobulin therapy, without explicit instruction from your treating physician.
Exclusion Criteria & Safety Red Flags
- Exclusion: Inability to provide a blood or extracted DNA sample; lack of informed consent or guardian consent (mandatory for minors); incomplete clinical history or pedigree data.
- Emergency Red Flags: High fever (>39ยฐC), respiratory distress, altered consciousness, or rapidly worsening infection โ seek immediate emergency care. Do not wait for genetic test results.
- Pre-Test Requirement: A pre-test genetic counselling session for family pedigree construction is mandatory prior to sample collection.
Patient FAQ & Clinical Guidance
1. What is the IKBKG gene and why is it tested?
The IKBKG gene (also known as NEMO) encodes a regulatory protein essential for immune signaling pathways. Pathogenic variants cause primary immunodeficiency syndromes that predispose individuals to recurrent invasive pneumococcal infections, Incontinentia Pigmenti, and X-linked EDA-ID. Testing identifies the precise genetic cause to guide clinical management.
2. How can this test explain recurrent pneumococcal infections despite a normal immune work-up?
An IKBKG mutation may cause a subtle, isolated defect in anti-pneumococcal immune signaling that standard immunological tests often miss. Full gene sequencing detects variants that disrupt NF-ฮบB activation specifically in response to pneumococcal antigens, providing a molecular explanation for recurrent infections.
3. My child has a skin rash resembling Incontinentia Pigmenti โ will this test confirm a link to immune problems?
Yes, comprehensive IKBKG sequencing identifies the exact mutation that causes both dermatological and immunological phenotypes. In families with Incontinentia Pigmenti, identifying the variant enables genotype-phenotype correlation and guides surveillance for associated immunodeficiency.
4. How do I prepare for a home blood collection for this genetic test?
Simply inform us of any anticoagulant use and schedule a 15-minute home visit โ fasting is not required for DNA extraction. Our mobile phlebotomist will arrive with temperature-controlled cold-chain transport to ensure sample integrity from collection to laboratory processing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All patient genetic data is processed in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring lawful collection, storage, and sharing of genomic information.
- Health ICT Compliance: This digital diagnostic service operates under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing telemedicine, electronic health records, and remote test ordering.
- Medical Liability & Consent: Clinical safety and informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, including specific provisions for genetic testing and minor assent protocols.
- Laboratory Certification: All samples are processed in an ISO 9001:2015-certified facility (Cert: INT/EGQ/2509DA/3139) with full adherence to UAE Ministry of Health and Dubai Health Authority quality standards.
Clinical & Logistical Metadata
| Test Name | IKBKG Gene Full Sequencing Analysis (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage, >50ร Mean Depth, GRCh38 Alignment, ACMG/AMP Variant Interpretation |
| ICD-10-CM Code | D82.8, Q82.3, B95.3 |
| LOINC Code | 85800-2 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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