Test Price
2,800 AED✅ Home Collection Available
LRRC8A Gene Agammaglobulinemia Type 5 (Autosomal Recessive) Genetic Test | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation & genetic counselling.
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test sequences the entire LRRC8A gene using Next Generation Sequencing (NGS) to detect causative mutations for autosomal recessive agammaglobulinemia type 5—a severe primary immunodeficiency characterized by near‑absent B cells and extremely low antibody levels. The test is ideal for confirmatory diagnosis, carrier screening, and family planning. High‑coverage NGS ensures detection of point mutations, small insertions/deletions, and deep intronic variants.
| Feature | Our Test (UAE Premium) | Closest Alternative |
|---|---|---|
| Methodology | Full Gene NGS (High Coverage) | Single‑gene Sanger or Targeted Panel |
| Clinical Sensitivity | >99% for point mutations/indels | Variable, may miss deep intronic variants |
| Turnaround Time | 3–4 Weeks (Expedited Available) | 4–8 Weeks |
| Included Support | Genetic Counselling + Tele‑Guidance | Report Only |
Physician Insight & Safety Protocols
“A confirmed LRRC8A mutation provides a definitive molecular diagnosis for agammaglobulinemia type 5, but treatment decisions must always integrate immunoglobulin levels, infection history, and multidisciplinary evaluation. Genetic testing is the first step—management requires ongoing collaboration with immunology and genetics teams.”
— Dr. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety Advisory
Treatment Continuation Warning
Do not discontinue any prescribed immunoglobulin therapy or other medications without consulting your doctor. Genetic results alone do not replace clinical monitoring. Always inform your physician about your genetic test outcome before altering treatment.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active severe infection requiring hospitalization; recent blood transfusion (within 4 weeks) may delay testing.
- ER Red Flags: If the individual develops sudden high fever, respiratory distress, or signs of sepsis, seek emergency care immediately—do not wait for genetic results.
- All patients must undergo a pre‑test genetic counselling session to document a three‑generation pedigree.
Patient FAQ & Clinical Guidance
1. What is the LRRC8A gene test for?
This test detects mutations in the LRRC8A gene that cause autosomal recessive agammaglobulinemia type 5, a severe primary immunodeficiency. Individuals with this condition have very few mature B cells and extremely low antibody levels, leading to recurrent bacterial infections starting in early infancy. The test confirms the diagnosis and guides lifelong immunoglobulin replacement therapy and genetic counselling.
2. How is the test performed?
A small blood sample (peripheral whole blood) is collected, either at our lab or via our VIP Mobile Phlebotomy service. DNA is extracted and the entire LRRC8A gene is sequenced using high‑coverage Next Generation Sequencing (NGS). Results are typically available within 3–4 weeks. No special preparation (fasting or medication restrictions) is required.
3. What are the benefits of genetic testing and counselling?
A confirmed molecular diagnosis allows for immediate initiation of immunoglobulin therapy, reducing infection risk. Carrier testing in family members helps identify at‑risk relatives and informs reproductive options. Our dedicated genetic counsellor explains the results and supports you through emotional and medical decisions.
4. Can the test be done on other family members?
Yes, once a pathogenic LRRC8A variant is identified in the index patient, targeted testing can be offered to asymptomatic relatives for carrier detection and early intervention. This is an essential part of family‑centred genetic care.
UAE Regulatory & Data Privacy Adherence
- Laboratory operations strictly adhere to 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.
- Patient safety and clinical consent comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – ensuring international quality management standards.
- DHA Licensed Facility (License No. 1143) with DHA‑licensed phlebotomists and genetic counsellors.
- Home Collection Window: 8 AM – 11 PM, 7 days a week. WhatsApp Support: +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | LRRC8A Gene Full Sequencing (Agammaglobulinemia Type 5, Autosomal Recessive) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Expedited available on request) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Analysis, High Coverage |
| ICD-10-CM Code | D80.0 (Hereditary hypogammaglobulinemia) |
| LOINC Code | 94499-8 (Genetic testing for primary immunodeficiency) |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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