Test Price
2,800 AED✅ Home Collection Available
RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test in UAE – 2,800 AED – DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM – 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a clinical geneticist for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test screens the entire RFXANK gene for pathogenic variants causing Bare Lymphocyte Syndrome Type 2 (BLS2), a rare autosomal recessive primary immunodeficiency. The analysis detects single-nucleotide variants, small insertions/deletions, and copy-number variations with high sensitivity, providing definitive molecular diagnosis for affected families.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Single‑nucleotide & copy‑number variants with 99.9% sensitivity | ~95% for known point mutations; may miss large deletions |
| Methodology | Next‑Generation Sequencing (Illumina‑based, bioinformatically validated) | Capillary electrophoresis, one exon at a time |
| Turnaround | 3‑4 weeks (full gene coverage) | 6‑8 weeks for full gene |
Physician Insight & Safety Protocols
“Genetic testing is a powerful adjunct to clinical and immunological evaluation. The identification of RFXANK variants must always be correlated with HLA expression studies and family pedigree analysis. This test provides crucial information for early diagnosis and informed family planning, but should not be interpreted in isolation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Medication Warning
Do not discontinue or alter any prescribed medication without consulting your treating physician. Some immune-modulating therapies may affect laboratory parameters; inform your genetic counsellor about all current medications.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Patients with active, untreated acute infections that may compromise sample integrity.
- Specimen collection from minors without informed consent from a legal guardian, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient exhibits signs of severe respiratory distress or septic shock, seek emergency care immediately — this test is not designed for acute crisis management.
Patient FAQ & Clinical Guidance
1. What does the RFXANK gene test detect?
This NGS test identifies pathogenic variants in the RFXANK gene that cause Bare Lymphocyte Syndrome Type 2 (BLS2), an inherited immune deficiency characterised by low MHC class II expression and recurrent infections.
2. How is the test performed and what sample is required?
A peripheral blood sample (3-5 mL in EDTA tube) or a dried blood spot (FTA card) is collected by a DHA-licensed phlebotomist during a home visit. A simple, minimally invasive cheek swab can also be provided if preferred.
3. What is the turnaround time and how will I receive my results?
Results are available within 3–4 weeks from sample receipt. A secure link to the electronic report will be sent via our patient portal, followed by a telephone consultation with a consultant medical geneticist to discuss the findings and implications.
4. Is genetic counselling included in the test price?
Yes. The package includes pre-test counselling (optional) and mandatory post-test telephone consultation. This ensures you understand the results, their inheritance pattern, and any recommended follow‑up for family members.
UAE Regulatory & Data Privacy Adherence
Trust and Compliance
This diagnostic service fully complies 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 genetic data is encrypted and stored on secure UAE-based servers with strict access controls. Patient consent and safety are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | RFXANK Gene Sequencing – Bare Lymphocyte Syndrome Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), dried blood spot (FTA card), or extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina platform, full gene coverage |
| ICD-10-CM Code | D81.7 |
| LOINC Code | 21636-7 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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