Test Price
2,800 AED✅ Home Collection Available
BLNK Gene Agammaglobulinemia Type 4 (Autosomal Recessive) Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostic
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (NGS) Processing.
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 for result interpretation and management planning.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Physician Oversight: Consultant Medical Genetics review and authorization for all genetic testing procedures.
Test Overview & Methodology
The BLNK Gene Agammaglobulinemia Type 4, Autosomal Recessive Genetic Test detects pathogenic mutations in the BLNK (B-cell linker) gene responsible for autosomal recessive agammaglobulinemia — a severe primary immunodeficiency characterized by the absence of B cells and all immunoglobulins, resulting in recurrent bacterial infections from early infancy. Performed using Next-Generation Sequencing (NGS) technology, this test provides comprehensive coverage of the BLNK coding region and splice sites, enabling definitive diagnosis, carrier screening, and informed clinical management including immunoglobulin replacement therapy and stem cell transplant evaluation.
| Feature | Our BLNK Genetic Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) — full gene coverage including all exons, intronic boundaries, and promoter regions | Sanger Sequencing — limited to previously identified mutation hotspots only |
| Diagnostic Sensitivity | >99.9% for all BLNK pathogenic and likely pathogenic variants | ~85% (only pre-specified mutations detectable) |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card | Blood only |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Price (AED) | 2,800 AED | ≈2,000 AED* |
| Carrier & Family Planning | Definitive carrier status determination, prenatal diagnosis support, and preimplantation genetic testing guidance | Limited to known familial mutation only |
*Estimated market price for limited Sanger analysis; not a direct service offering from DNA Labs UAE.
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that this NGS-based test provides a comprehensive evaluation of the BLNK gene with high diagnostic yield. However, genetic results must be interpreted alongside clinical history, serum immunoglobulin levels, and B-cell enumeration studies. A confirmed diagnosis of BLNK-related agammaglobulinemia can direct life-saving interventions including immunoglobulin replacement therapy and hematopoietic stem cell transplant assessment. All patients must maintain their prescribed treatment regimens and consult their managing physician before initiating any changes based on test results.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Patient Advisory
⚠️ Continue all prescribed medications and therapies without interruption. Do not stop or modify immunoglobulin replacement therapy, prophylactic antibiotics, or any other treatment unless explicitly directed by your primary physician.
Exclusion Criteria & Emergency Red Flags
- Not suitable for patients with active life-threatening infections requiring emergency medical intervention; seek immediate hospital care if signs of sepsis are present (high fever, rigors, hypotension).
- Individuals with known bleeding disorders (e.g., severe thrombocytopenia, haemophilia, or coagulopathy) must consult a haematologist before blood sample collection.
- This test is not intended as a stand-alone screening tool; concurrent immunological evaluation including serum immunoglobulins (IgG, IgA, IgM) and B-cell enumeration by flow cytometry is mandatory for accurate interpretation.
- Emergency Red Flags: If you experience high fever exceeding 39°C, chills, uncontrolled pain at the venipuncture site, or signs of allergic reaction after sample collection, contact emergency services immediately.
Patient FAQ & Clinical Guidance
1. What is the BLNK gene and how does it cause agammaglobulinemia?
The BLNK gene encodes a cytoplasmic adaptor protein essential for B-cell receptor (BCR) signaling and B-lymphocyte maturation. Recessive loss-of-function mutations in BLNK disrupt the pre-BCR signaling cascade, arresting B-cell development at the pro-B to pre-B transition stage. This leads to a near-complete absence of mature B cells and profound deficiency of all immunoglobulin classes (IgG, IgA, IgM), resulting in recurrent bacterial infections typically presenting within the first two years of life. Early genetic diagnosis is critical for initiating immunoglobulin replacement therapy and preventing end-organ damage from severe infections.
2. Who should consider this genetic test?
This test is indicated for: (a) infants and children presenting with recurrent sinopulmonary infections, otitis media, and failure to thrive with laboratory evidence of pan-hypogammaglobulinemia and absent circulating B cells; (b) individuals with a clinical suspicion of autosomal recessive agammaglobulinemia but negative for BTK gene mutations (X-linked form); (c) asymptomatic family members of an affected proband who wish to determine carrier status; (d) couples planning pregnancy with a family history of BLNK-related agammaglobulinemia seeking preimplantation genetic testing options.
3. How is the test performed and what are the sample requirements?
The test requires a peripheral whole blood sample (3–5 mL in an EDTA tube), extracted DNA, or a dried blood spot on an FTA card. A mandatory pre-test genetic counseling session is conducted to document family history, discuss inheritance patterns, and obtain written informed consent as required under UAE medical liability regulations. Post-test, a comprehensive genetic report with variant classification per ACMG/AMP guidelines is issued, accompanied by a telephonic consultation with our Consultant Medical Genetics for result explanation and clinical recommendations.
4. What is the turnaround time and how will I receive my results?
The standard turnaround time for complete NGS analysis, bioinformatics processing, variant interpretation, and clinical report generation is 3 to 4 weeks from sample receipt at the laboratory. Results are delivered via secure encrypted digital portal with a detailed PDF report including raw variant data, pathogenicity classification, and clinical recommendations. A telephonic consultation with the reporting geneticist is scheduled within 5 business days of report release to address patient questions and coordinate further management with your primary care team.
5. How can I book this test or obtain additional information?
Bookings can be made directly via WhatsApp at +971 54 548 8731 for same-day confirmation and direct billing verification with your insurance provider. Alternatively, you may visit our facility at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE during operating hours to schedule your test in person with our genetic counseling team.
UAE Regulatory & Data Privacy Adherence
All genetic testing procedures at DNA Labs UAE are conducted in full compliance with the following UAE federal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — ensuring strict confidentiality, consent-based processing, and secure storage of all genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — governing the ethical and secure handling of digital health records and electronic transmission of laboratory results.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — regulating clinical safety standards, mandatory pre-test counseling, informed consent protocols, and post-test clinical accountability.
DNA Labs UAE is ISO 9001:2015 certified (Certification INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143, with all molecular genetic testing performed in our accredited Dubai Healthcare City laboratory.
Clinical & Logistical Metadata
| Test Name | BLNK Gene Agammaglobulinemia Type 4 (Autosomal Recessive) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) — Full Gene Coverage Including Coding Exons and Splice Sites |
| ICD-10-CM Code | D80.0 (Hereditary hypogammaglobulinemia) |
| LOINC Code | 94853-7 (BLNK gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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