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Test Price

2,800 AED

โœ… Home Collection Available

IRAK4 Gene Invasive Pneumococcal Disease (Recurrent, Isolated Type 1) Genetic Test in UAE 2800 AED โ€“ DHA-Certified Laboratory

Executive Summary & Core Metrics

โ— Diagnostic Sensitivity: 99.9% analytical sensitivity and specificity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).

โ— Collection Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.

โ— Post-Test Support: Telephonic clinical guidance for result interpretation by a Consultant Medical Geneticist.

โ— Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced next-generation sequencing (NGS) panel interrogates the complete coding region and splice sites of the IRAK4 gene to detect pathogenic and likely pathogenic variants responsible for autosomal recessive IRAK-4 deficiency. This primary immunodeficiency predisposes individuals to recurrent, life-threatening invasive pneumococcal disease, typically manifesting after the first year of life with impaired antibody responses to polysaccharide vaccines. Early molecular confirmation enables proactive infectious disease management and family counselling.

Feature DNA Labs UAE IRAK4 NGS Test Single-Gene Sanger Alternative
Precision 99.9% analytical sensitivity and specificity; full gene coverage including intronic boundaries ~98% sensitivity; restricted to previously reported exonic hotspots
Method Next-Generation Sequencing (NGS) with MLPA confirmation for copy number variants Bidirectional Sanger sequencing of selected exons only
Turnaround 3 to 4 weeks with expert clinical annotation and variant interpretation 6 to 8 weeks; limited interpretive support

Physician Insight & Safety Protocols

โ€œAs a Consultant Medical Geneticist, I recommend this test for any child or adult presenting with recurrent invasive pneumococcal infections beyond the second year of life, especially when immunological studies demonstrate inadequate responses to polysaccharide-based vaccines. Detection of biallelic pathogenic variants in IRAK4 confirms the diagnosis of IRAK-4 deficiency and directs long-term prophylactic management. However, a negative result does not exclude all forms of primary immunodeficiency; comprehensive clinical and immunological correlation remains mandatory.โ€

โ€” Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory on Treatment Continuity

โš ๏ธ Important Clinical Advisory

Never discontinue prescribed prophylactic antibiotics, immunoglobulin replacement therapy, or any infection prevention regimen without direct consultation with the managing immunologist. This genetic test provides diagnostic confirmation and does not replace acute medical management during active infection.

Exclusion Criteria & Emergency Red Flags

  • Active febrile illness with temperature exceeding 38.5ยฐC or evidence of systemic infection โ€” postpone home collection until clinical stability is confirmed.
  • For minors, written informed consent from a parent or legal guardian is required under Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • If the patient presents with severe respiratory distress, cyanosis, hypotension, or altered consciousness, seek emergency medical care immediately without waiting for test results.

Patient FAQ & Clinical Guidance

1. What does the IRAK4 gene test detect and why is it relevant in the UAE?

This test identifies disease-causing mutations in the IRAK4 gene that result in a primary immunodeficiency known as IRAK-4 deficiency. Affected individuals are highly susceptible to recurrent, severe infections caused by Streptococcus pneumoniae. In populations with elevated rates of consanguinity, this autosomal recessive condition is more frequently encountered, making targeted genetic testing a critical component of preventive medicine.

2. How should I prepare for the blood draw and what sample types are accepted?

Submit a detailed clinical history together with any available immunological workup results. Acceptable sample matrices include: peripheral whole blood collected in EDTA tubes, extracted genomic DNA (minimum 1 ยตg), or a single dried blood spot on an FTA card. All specimens must be transported under temperature-controlled cold-chain conditions to preserve nucleic acid integrity.

3. When will I receive the results and what does a positive finding mean for my family?

Results are delivered within 3 to 4 weeks accompanied by a comprehensive clinical report that includes variant classification, inheritance pattern, and management recommendations. A positive result confirming IRAK-4 deficiency warrants an urgent referral to a clinical immunologist for initiation of prophylactic antibiotics, consideration of immunoglobulin replacement, and genetic counselling for at-risk family members.

4. Is home collection available and how does the process work?

Yes, VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM across all Emirates. A certified phlebotomist arrives at your residence, performs the blood draw under sterile conditions, and transports the sample directly to our ISO-accredited laboratory using temperature-controlled cold-chain logistics. Contact our concierge team via WhatsApp to schedule an appointment.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance Framework

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 genomic sequence data is processed exclusively within UAE borders through our ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139, MOHAP License: 9834453). Patient consent, data minimization, and purpose limitation are enforced at every stage of the testing workflow in accordance with UAE federal health information governance standards.

Clinical & Logistical Metadata

Test Name IRAK4 Gene Invasive Pneumococcal Disease (Recurrent, Isolated Type 1) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3 to 4 weeks (21โ€“28 calendar days)
Sample Type / Matrix Whole blood (EDTA), extracted genomic DNA, or FTA card dried blood spot
Methodology Used Next-Generation Sequencing (NGS) with MLPA confirmation for copy number analysis
ICD-10-CM Code D82.8
LOINC Code 81303-9
DHA Facility License & Laboratory Address DHA Facility License Number: 1143 โ€” Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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Available in Arabic, English, Hindi & Urdu

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All reports reviewed by DHA-Certified physicians