Test Price
2,800 AEDโ Home Collection Available
STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 Genetic Test in UAE | 2800 AED | DHA-Registered
Executive Summary & Core Metrics
Clinical Synopsis
- โAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with comprehensive STXBP2 gene coverage including all coding exons and splice-site regions.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AMโ11 PM daily across all Emirates).
- โClinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with DHA-licensed genetic counsellors and immunologists.
- โInsurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 โ we coordinate with all major UAE insurers including Daman, AXA, Oman Insurance, and Neuron before your draw.
Test Overview & Methodology
The STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 Genetic Test is a definitive molecular diagnostic assay that identifies pathogenic variants in the STXBP2 gene responsible for Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5), a life-threatening autosomal recessive immune dysregulation syndrome. Utilizing Next-Generation Sequencing with full bioinformatic annotation against ClinVar, HGMD, and gnomAD reference databases, this test delivers clinically actionable results for affected individuals, presymptomatic family members, and carrier screening for reproductive planning. All testing is performed at DNA Labs UAE under DHA Facility License 1143, ensuring full compliance with UAE data protection and healthcare regulations.
Pre-Test Requirements & Logistics
- Sample Types Accepted: Whole Blood (EDTA tube, 3โ5 mL), Extracted DNA (โฅ1 ยตg at โฅ50 ng/ยตL), or Dried Blood Spot on FTA Card
- Pre-requisite: Clinical history documentation and a genetic counselling session to draw a pedigree chart of family members affected with STXBP2-related HLH Type 5
- Home Collection Hours: 8:00 AM โ 11:00 PM daily across all seven Emirates via VIP Mobile Phlebotomy
- Turnaround Time: 3 to 4 Weeks from sample receipt; interim verbal reports available for critically ill inpatients
- Insurance Verification: WhatsApp +971 54 548 8731 with your Emirates ID and insurance card for real-time direct billing confirmation
| Feature | Our NGS Test โ STXBP2 Full Gene | Closest Alternative โ Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity โ All 20 exons, intron-exon boundaries, and deep intronic regulatory regions | ~95% โ Limited to PCR-amplifiable coding regions only; misses large deletions and deep intronic variants |
| Methodology | NGS (Next-Generation Sequencing) with โฅ100x mean read depth and Sanger confirmation of all reported variants | Sanger Sequencing โ Sequential single-amplicon analysis; lower throughput |
| Turnaround Time | 3โ4 Weeks with interim verbal report for critically ill inpatients upon request | 4โ6 Weeks โ Extended due to sequential exon-by-exon processing |
| Clinical Utility | Comprehensive โ Diagnosis, carrier status, familial variant segregation, and HLA-matching preparatory data for HSCT | Limited โ Targeted known familial variant testing only; not suitable for novel variant discovery |
| Regulatory Alignment | Full compliance with UAE PDPL, Federal Law No. 2 of 2019, and DHA genetic testing standards for genomic data sovereignty | Variable โ May not meet UAE genomic data sovereignty standards for cross-border data transfer |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh
DHA Registration ID: 9294403 | Consultant Medical Genetics
Familial Hemophagocytic Lymphohistiocytosis Type 5 represents a critical immunologic emergency where early genetic confirmation directly alters the treatment trajectory. Identifying biallelic STXBP2 pathogenic variants enables the clinical team to initiate targeted immunomodulation with emapalumab and expedite the search for a suitable haematopoietic stem cell donor. In my practice, I emphasize that the STXBP2 genotype must be evaluated alongside serial ferritin, sCD25, and natural killer cell degranulation assays to accurately stage disease activity before committing to transplantation protocols. This integrated approach optimizes outcomes for affected children and their families across the UAE.
Medication Advisory & Treatment Continuity
Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Patients undergoing immunosuppressive therapy, including corticosteroids, etoposide, cyclosporine, or emapalumab, must continue their prescribed regimen unless explicitly advised otherwise by their treating immunologist or haematologist. Abrupt cessation of HLH-directed therapy can precipitate a fatal hyperinflammatory flare.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed with Routine Draw)
- Active febrile episode โฅ38.5ยฐC within 24 hours of scheduled collection
- Haemodynamic instability (systolic BP <90 mmHg or heart rate >120 bpm at rest)
- Known severe coagulopathy (INR >2.0 or platelet count <30,000/ยตL) without haematologist clearance
- Patient currently admitted to ICU for acute HLH decompensation โ request inpatient phlebotomy coordination
Emergency Red Flags โ Seek Immediate Medical Attention
- Persistent high-grade fever unresponsive to antipyretics
- Progressive pancytopenia with new-onset bleeding or bruising
- Acute neurological changes: seizures, altered consciousness, or focal deficits
- Jaundice with rapidly rising transaminases or signs of acute liver failure
- Respiratory distress or new oxygen requirement
If any red flag symptoms are present, proceed directly to the nearest Emergency Department. Inform the treating team of the suspected HLH diagnosis and the pending STXBP2 genetic test.
Patient FAQ & Clinical Guidance
1. What does a positive STXBP2 genetic test result mean for my child's treatment plan and long-term prognosis?
A positive STXBP2 result confirming biallelic pathogenic variants definitively establishes the diagnosis of Familial Hemophagocytic Lymphohistiocytosis Type 5, which is a life-threatening autosomal recessive immune disorder requiring urgent multidisciplinary intervention by immunology and haematology specialists. The genetic confirmation enables eligibility for targeted therapies including emapalumab (anti-IFN-gamma monoclonal antibody) and expedites the pathway toward allogeneic haematopoietic stem cell transplantation (HSCT), which remains the only curative treatment for FHL5. With early HSCT from a well-matched donor, long-term survival rates exceed 70โ90%, and the STXBP2 genotype also informs familial variant screening so that siblings at risk can be identified before they decompensate.
2. Why choose this specific NGS test in the UAE instead of sending samples abroad for genetic analysis?
This UAE-based STXBP2 NGS test operates under DHA Facility License 1143 with ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139), ensuring your genomic data remains fully protected under UAE PDPL and Federal Law No. 2 of 2019 without the jurisdictional risks associated with cross-border data transfer. Processing within the Emirates guarantees cold-chain integrity from home collection to sequencing with complete chain-of-custody documentation, eliminates customs-related biospecimen delays, and provides direct access to DHA-licensed genetic counsellors who understand the regional consanguinity patterns and familial structures that influence STXBP2 variant interpretation in Gulf populations.
3. Can this genetic test be performed for minors under 18 years of age in the UAE?
Yes, the STXBP2 genetic test can be performed for minors in the UAE under the strict regulatory framework of Federal Law No. 2 of 2019 concerning health information technology, which requires written consent from both parents or the legal guardian following a mandatory documented genetic counselling session. Blood collection for paediatric patients is performed by a nursing team experienced in paediatric care using pain-minimisation techniques, with the child's safety and psychological comfort prioritised throughout the process. All data handling for minors complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring the highest standards of confidentiality and data security.
Target Clinical Specialists & Referral Indications
Immunologist
Primary specialist for HLH diagnosis and immunomodulatory management. Refer when a patient presents with prolonged fever, hepatosplenomegaly, cytopenias, and hyperferritinemia โ genetic confirmation of FHL5 guides emapalumab eligibility and HSCT timing.
Oncologist / Haematologist
Essential for malignancy-associated HLH differential diagnosis and HSCT coordination. STXBP2 status stratifies patients for etoposide-based protocols (HLH-2004) versus targeted biologic therapies.
Dermatologist
Cutaneous manifestations โ including erythroderma, purpura, and panniculitis-like lesions โ are present in up to 60% of HLH patients. Dermatologists identifying suspicious skin findings with systemic symptoms should initiate the HLH diagnostic cascade including STXBP2 genetic testing.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance 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, ensuring that your genomic data remains confidential, stored within UAE sovereign infrastructure, and processed under strict governance protocols. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License 1143 with ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) at DNA Labs UAE, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All genetic counselling and result disclosure follow mandated ethical frameworks to protect patient autonomy and family privacy.
Clinical & Logistical Metadata
| Test Name | STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (interim verbal report available for critically ill inpatients upon request) |
| Sample Type / Matrix | Whole Blood (EDTA tube, 3โ5 mL), Extracted DNA (โฅ1 ยตg at โฅ50 ng/ยตL), or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with โฅ100x mean read depth and Sanger confirmation of all reported variants |
| ICD-10-CM Code | D76.1 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Federal Decree-Law No. 45 of 2021 (PDPL) | Federal Law No. 2 of 2019 | Federal Decree-Law No. 4 of 2016 | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139 | DHA Facility License: 1143
This page is for informational purposes only and does not constitute medical advice. Always consult a DHA-licensed physician for diagnosis and treatment decisions.
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