Test Price
2,800 AED✅ Home Collection Available
GATA2 Gene Emberger Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
The GATA2 Gene Emberger Syndrome Genetic Test is a high-resolution molecular diagnostic assay that screens the entire coding region and splice-site junctions of the GATA2 gene for single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs). Emberger Syndrome, caused by germline heterozygous loss-of-function mutations in GATA2, manifests as a clinical triad of primary lymphedema, progressive myelodysplastic syndrome (MDS) with elevated risk of acute myeloid leukemia (AML) transformation, and severe immunodeficiency due to monocytopenia and B-cell/NK-cell lymphopenia.
| Feature | Our Test – GATA2 NGS (DNA Labs UAE) | Closest Alternative – Single-Gene Sanger Sequencing |
|---|---|---|
| Precision & Coverage | Full GATA2 gene coverage (exons 1-6, intron-exon boundaries, promoter region) with CNV detection via NGS depth-of-coverage analysis | Targeted amplicon sequencing of selected exons only; large deletions/duplications often missed |
| Methodology | Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation of all clinically reportable variants; 500x minimum read depth | Chain-termination Sanger sequencing; lower throughput and inability to multiplex |
| Turnaround Time | 3–4 Weeks (21–28 business days) with expedited reporting for clinically urgent cases | 4–8 Weeks depending on reference laboratory batching schedules |
| UAE Regulatory Compliance | Full DHA/MOHAP accreditation under License No. 1143; ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139); PDPL-compliant data handling | Variable; often processed overseas with non-guaranteed UAE data sovereignty |
Physician Insight & Safety Protocols
"A pathogenic variant in GATA2 has profound implications for the patient and their family. It is crucial to interpret the result within the context of the patient's complete blood count, bone marrow findings, and family history. I have seen cases where the diagnosis of Emberger Syndrome was delayed due to an incomplete family pedigree. Genetic counselling for the patient and at-risk relatives is paramount. This test, combined with a thorough clinical evaluation, can guide early surveillance and therapeutic interventions such as hematopoietic stem cell transplantation."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Warning
Do not discontinue, modify, or pause any prescribed medication — including but not limited to immunosuppressants, corticosteroids, anticoagulants, or chemotherapy agents — without explicit consultation with your treating physician. Genetic test results may inform long-term management but do not replace acute clinical decision-making.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria (Do Not Proceed with Sample Collection): Active febrile illness with temperature exceeding 38.5°C; recent blood transfusion within 14 days; active systemic infection requiring intravenous antimicrobial therapy; inability to provide informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability (minors require documented guardian authorization and court-affirmed consent for predictive genetic testing).
- Emergency Red Flags – Seek Immediate Medical Attention: New-onset easy bruising, petechiae, or unexplained bleeding (may indicate progressive MDS/AML transformation); rapidly worsening lower-extremity edema with erythema and warmth (rule out cellulitis superimposed on lymphedema); fever with absolute neutrophil count below 500 cells/µL; signs of acute leukemia: fatigue, pallor, bone pain, or spontaneous gingival bleeding.
Pre-Test Requirements – Mandatory Genetic Counselling Session
All patients proceeding with the GATA2 Gene Emberger Syndrome Genetic Test must complete a pre-test genetic counselling session. This session includes: (1) Drawing a detailed three-generation pedigree chart to identify family members affected by Emberger Syndrome, MDS, AML, primary lymphedema, or unexplained early-onset hematological malignancies; (2) Discussion of the autosomal dominant inheritance pattern of GATA2-related disorders, including implications for first-degree relatives; (3) Review of possible test outcomes — positive (pathogenic variant identified), negative (no variant detected), or variant of uncertain significance (VUS) — and the clinical follow-up pathway for each scenario; (4) Informed consent documentation in accordance with Federal Decree-Law No. 4 of 2016. Sample Types Accepted: Whole Blood (EDTA tube, 4 mL minimum), Extracted DNA (minimum 2 µg at concentration ≥50 ng/µL), or Dried Blood Spot on FTA Card (two fully saturated circles).
Patient FAQ & Clinical Guidance
1. What exactly does the GATA2 Emberger Syndrome NGS test detect, and why might I need it?
Answer: This test detects pathogenic germline mutations across the entire GATA2 gene that cause Emberger Syndrome, a rare hereditary disorder characterized by primary lymphedema, myelodysplastic syndrome, and life-threatening immunodeficiency requiring specialized surveillance and early intervention. Clinically, this test is indicated for individuals presenting with unexplained lymphedema before age 30, a personal or family history of MDS or AML at a young age, persistent monocytopenia with B-cell and NK-cell lymphopenia, or a known family history of GATA2-related disease. Identifying a pathogenic variant enables risk-stratified surveillance protocols — including regular complete blood counts, bone marrow evaluations, and evaluation for hematopoietic stem cell transplantation — which are proven to improve long-term survival outcomes when initiated before leukemic transformation.
2. How accurate and reliable is NGS technology for GATA2 gene testing?
Answer: Our NGS-based GATA2 assay achieves 99.9% analytical sensitivity and 99.8% analytical specificity for single nucleotide variants and small indels within the targeted regions, with all clinically reportable variants confirmed by orthogonal Sanger sequencing to eliminate false-positive calls and ensure diagnostic-grade accuracy. Next-Generation Sequencing has matured significantly, with enhanced bioinformatics pipelines utilizing artificial intelligence-assisted variant classification aligned with ACMG/AMP 2025 guidelines, substantially reducing variants of uncertain significance (VUS) rates compared to earlier platforms. The test's clinical validity for Emberger Syndrome is well-established in the medical literature, with over 200 distinct pathogenic GATA2 variants catalogued in ClinVar and the Human Gene Mutation Database (HGMD Professional 2026.1). Our laboratory participates in the College of American Pathologists (CAP) NGS proficiency testing program and the European Molecular Genetics Quality Network (EMQN) external quality assessment scheme for hereditary hematological disorders.
3. Can this test be performed on children and adolescents in the UAE, and what legal procedures are required?
Answer: Yes, this test can be performed on minors in the UAE under strict regulations. Per Federal Decree-Law No. 4 of 2016 on Medical Liability, written informed consent from both parents or legal guardians is required, along with a court order for predictive genetic testing for children under 18. Pre-test genetic counselling must involve both parents and discuss the clinical benefits versus psychosocial risks. Early diagnosis can significantly improve long-term outcomes by allowing initiation of hematological monitoring and early intervention strategies.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates under the full regulatory authority of the Dubai Health Authority (DHA) License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All procedures 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. Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our quality management system is certified to ISO 9001:2015 under Certificate No. INT/EGQ/2509DA/3139. All genetic data is processed and stored within UAE sovereign data centers. For insurance verification, appointment scheduling, or clinical inquiries, contact our dedicated support line via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | GATA2 Gene Emberger Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (21–28 business days); expedited available for urgent cases |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | D46.9 (Myelodysplastic syndrome, unspecified); I89.0 (Lymphedema, not elsewhere classified) |
| LOINC Code | 85401-6 (GATA2 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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