Test Price
2,800 AED✅ Home Collection Available
CD40 Gene Sequencing – Hyper-IgM Syndrome Type 3 (Autosomal Recessive Immunodeficiency) – Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015 certified NGS platform.
Premium Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection (Daily 8 AM – 11 PM).
Clinical Support: Post-test genetic counselling session included with DHA-licensed specialist.
Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
An advanced Next-Generation Sequencing (NGS) analysis of the entire coding region of the CD40 gene to diagnose autosomal recessive Hyper-IgM syndrome type 3. This severe immunodeficiency is characterised by normal or elevated IgM with low IgG, IgA, and IgE, leading to recurrent infections, autoimmunity, and increased susceptibility to opportunistic pathogens. Definitive molecular diagnosis via full-gene sequencing enables early targeted intervention including immunoglobulin replacement therapy and haematopoietic stem cell transplantation.
| Feature | Our Test (CD40 NGS – DHA/MOHAP Standard) | Closest Alternative (Targeted Genotyping) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; detects all SNVs, indels, CNVs across the entire CD40 gene | Limited to pre-defined common mutations; may miss rare or private variants |
| Methodology | NGS (Illumina® platform) with Sanger validation, ISO 9001:2015 lab | PCR + RFLP or SSP; no sequence-level resolution |
| Turnaround Time | 3 to 4 Weeks (express available) | 5–7 days for limited panel, but often requires second test for full sequencing |
Physician Insight & Safety Protocols
"Early and precise molecular diagnosis of CD40 deficiency is critical for preventing life-threatening infections and optimising long-term outcomes. This NGS assay provides comprehensive coverage of the CD40 gene, enabling accurate classification of Hyper-IgM syndrome type 3. A negative result does not exclude other primary immunodeficiencies; therefore, results must always be interpreted alongside a full immunological workup and clinical correlation. Genetic counselling is recommended for affected families."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory: Pre-Test Considerations
Safety Exclusion Criteria & Red Flags
- Patients currently on anticoagulants (e.g., warfarin, heparin) require physician clearance before blood draw.
- Severe thrombocytopenia or active bleeding disorder: elevated risk of haematoma.
- Recent (within 4 weeks) haematopoietic stem cell transplant may cause donor chimerism confounding results.
- Seek emergency care if post-collection: fever >38.5°C, uncontrolled bleeding, or signs of local infection.
- Minors must be accompanied by a legal guardian.
Informed Consent & Patient Rights
Regulatory Safeguards for Genetic Testing
In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, all patients undergoing genetic testing at DNA Labs UAE provide written informed consent prior to sample collection. Results are issued only to the ordering physician or directly to the patient with verified identity. Pre- and post-test genetic counselling is mandatory for all primary immunodeficiency genetic tests under DHA guidelines.
Patient FAQ & Clinical Guidance
1. What is the clinical sensitivity of this CD40 NGS test for Hyper-IgM type 3?
This ISO 9001:2015 certified NGS assay achieves greater than 99% analytical sensitivity and specificity for all CD40 coding variants, providing a definitive molecular diagnosis in patients with the typical immunological phenotype of elevated IgM with low IgG, IgA, and IgE.
2. Can the test be performed on a dried blood spot from a newborn?
Yes, we accept FTA card microsamples — a single drop of blood is sufficient for whole gene sequencing, enabling minimally invasive collection in neonates and remote locations across the UAE.
3. How soon can I receive my results, and is genetic counselling included?
Results are delivered within 3–4 weeks via our secure patient portal. A complimentary post-test genetic counselling session with a DHA-licensed Consultant Medical Genetics is scheduled to interpret findings, discuss inheritance patterns, and explore family planning options.
4. What sample type is required for this genetic test?
A standard peripheral whole blood sample (3–5 mL in EDTA tube) is required. For neonates or patients with difficult venous access, an FTA card dried blood spot is accepted. Our VIP mobile phlebotomy service can collect samples at your home between 8 AM and 11 PM daily.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Licensed by Dubai Health Authority (Facility License No. 1143) and fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure handling of electronic health records.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) — ensuring processes meet international quality management standards.
- All sample logistics follow validated cold-chain protocols; home collection available daily 8 AM – 11 PM.
Clinical & Logistical Metadata
| Test Name | CD40 Gene Sequencing – Hyper-IgM Syndrome Type 3 (Autosomal Recessive Immunodeficiency) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (express service available upon request) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® Platform with Sanger Confirmation |
| ICD-10-CM Code | D82.3 |
| LOINC Code | 94497-8 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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