Test Price
2,800 AEDโ Home Collection Available
CD40LG Gene Immunodeficiency, X-linked with Hyper-IgM Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015-certified NGS platform for full CD40LG gene sequencing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed genetics specialist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This genetic test screens the entire CD40LG gene using next-generation sequencing (NGS) to detect pathogenic variants causing X-linked hyper-IgM syndrome (HIGM1), a severe primary immunodeficiency. The test provides comprehensive mutation detection including point mutations, deletions, insertions, and deep intronic variants with near-complete diagnostic sensitivity, enabling definitive diagnosis and informed family planning.
| Feature | Our NGS Test | Closest Alternative (Sanger) |
|---|---|---|
| Method | Full gene NGS (Next-Generation Sequencing) | Targeted Sanger sequencing for known familial variant |
| Diagnostic Sensitivity | 99.9% โ detects all mutation types including deep intronic variants | ~85-90% โ limited to targeted region |
| Turnaround Time | 3 โ 4 weeks | 4 โ 6 weeks |
| Clinical Utility | Diagnostic, prenatal, carrier screening & family risk assessment | Best for confirmatory testing of known mutation |
Physician Insight & Safety Protocols
โThis NGS-based analysis of the CD40LG gene represents a critical diagnostic tool for confirming X-linked hyper-IgM syndrome. The comprehensive coverage provided by next-generation sequencing allows detection of variants that may evade traditional methods, offering families definitive answers and guiding targeted therapeutic strategies. Results must always be correlated with immunological phenotype and interpreted within the full clinical context by a qualified genetics professional.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
โ ๏ธ Important Clinical Note
Do not discontinue prescribed immunoglobulin replacement therapy, prophylactic antimicrobials, or any immunomodulatory treatment without explicit guidance from your treating immunologist. A genetic diagnosis complements but does not replace ongoing clinical management and monitoring.
Exclusion Criteria & Emergency Red Flags
Contraindications for Testing
- This test is not intended for individuals without clinical suspicion of X-linked hyper-IgM syndrome or a referral from a genetic counsellor or immunologist.
- Do not use as an acute diagnostic tool during active severe infection; the patient must be clinically stabilised prior to sample collection.
- Emergency Red Flags: If you or your child experience respiratory distress, cyanosis, high fever unresponsive to antipyretics, or signs of sepsis, seek immediate emergency medical attention by calling 998 or visiting the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What is the CD40LG gene test for hyper-IgM syndrome?
This test detects CD40LG pathogenic variants to diagnose X-linked hyper-IgM syndrome, a severe primary immunodeficiency. Using next-generation sequencing, it examines the full gene for all mutation types including point mutations, deletions, insertions, and deep intronic variants with near-complete sensitivity, enabling definitive diagnosis and informed family planning.
2. Why is NGS used for CD40LG analysis?
Next-generation sequencing provides full CD40LG gene coverage, detecting all mutation types with high sensitivity. Traditional single-gene Sanger sequencing may miss deep intronic or regulatory variants; NGS delivers a comprehensive mutation profile necessary for diagnosing complex immunodeficiencies and guiding appropriate clinical management.
3. How long do results take and what is the process?
Your CD40LG NGS results are available within 3 to 4 weeks from sample collection, with genetic counseling support provided. After a blood draw or FTA card sample collection at your home by our DHA-licensed phlebotomist, the specimen is transported under strict temperature-controlled cold-chain to our ISO 9001:2015-certified laboratory for sequencing and clinical variant interpretation.
4. Who should consider this genetic test?
This test is indicated for individuals with clinical features suggestive of X-linked hyper-IgM syndrome. Typical presentations include recurrent sinopulmonary infections, opportunistic infections such as Pneumocystis jirovecii pneumonia, chronic diarrhea, autoimmune manifestations, and a family history consistent with X-linked inheritance. Referral from an immunologist or genetic counselor is recommended prior to testing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This genetic testing service operates in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of personal and genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating digital health data exchange and telemedicine practices.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ establishing the legal framework for clinical responsibility and patient consent in diagnostic procedures.
All genetic counseling sessions and result disclosures adhere to DHA and MOHAP standards for genetic testing services. Your genetic data is encrypted, access-restricted, and processed solely for diagnostic purposes with your explicit informed consent.
Clinical & Logistical Metadata
| Test Name | CD40LG Gene Immunodeficiency, X-linked with Hyper-IgM Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 weeks from sample collection |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Sample |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full CD40LG Gene Coverage |
| ICD-10-CM Code | D82.3 (X-linked hyper-IgM syndrome) |
| LOINC Code | 96720-3 (CD40LG gene mutation detection in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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