Test Price
2,800 AED✅ Home Collection Available
STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين STXBP2 لكثرة اللمفاويات البلعمية العائلية النوع الخامس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with comprehensive STXBP2 gene coverage including all coding exons and splice-site regions.
- ✓Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM–11 PM daily across all Emirates).
- ✓Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with DHA-licensed genetic counsellors and immunologists.
- ✓Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 — we coordinate with all major UAE insurers including Daman, AXA, Oman Insurance, and Neuron before your draw.
يقدم هذا التحليل الجيني المتقدم باستخدام تقنية التسلسل من الجيل التالي (NGS) تشخيصاً دقيقاً لطفرة جين STXBP2 المرتبطة بكثرة اللمفاويات البلعمية العائلية من النوع الخامس، وهو اضطراب مناعي نادر يهدد الحياة. يتم إجراء التحليل في مختبر معتمد دولياً وفق معايير ISO 9001:2015 وتحت إشراف هيئة الصحة بدبي (DHA)، مع توفير خدمة سحب الدم المنزلي وجلسات استشارة وراثية متكاملة لضمان الفهم الكامل للنتائج وتأثيرها على الأسرة.
Overview
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. يكشف هذا التحليل الطفرات المسببة للمرض بدقة تفوق 99%، مما يتيح التدخل العلاجي المبكر وإنقاذ حياة المرضى. 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 in accordance with 2026 DHA genetic testing regulations.
| Feature | Our NGS Test — STXBP2 Full Gene | Closest Alternative — Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity — All 20 exons, intron-exon boundaries, and deep intronic regulatory regions | ~95% — Limited to PCR-amplifiable coding regions only; misses large deletions and deep intronic variants |
| Methodology | NGS (Next-Generation Sequencing) with ≥100x mean read depth and Sanger confirmation of all reported variants | Sanger Sequencing — Sequential single-amplicon analysis; lower throughput |
| Turnaround Time | 3–4 Weeks with interim verbal report for critically ill inpatients upon request | 4–6 Weeks — Extended due to sequential exon-by-exon processing |
| Clinical Utility | Comprehensive — Diagnosis, carrier status, familial variant segregation, and HLA-matching preparatory data for HSCT | Limited — Targeted known familial variant testing only; not suitable for novel variant discovery |
| Regulatory Alignment | Full compliance with Federal Decree-Law No. 41 of 2024 (Art. 87), UAE PDPL, and CDS Law 2026 (Minors) | Variable — May not meet 2026 UAE genomic data sovereignty standards |
Physician Insight & Safety Protocol
Clinical Note from Dr. PRABHAKAR REDDY
DHA License: 61713011 | Consultant Immunologist & Genetic Medicine Specialist
Hemophagocytic Lymphohistiocytosis Type 5 is a devastating yet treatable condition when identified early — I have witnessed the profound difference a timely genetic diagnosis makes for families navigating this difficult journey. A positive STXBP2 result must always be correlated with clinical and laboratory criteria including ferritin, triglycerides, fibrinogen, and soluble CD25 levels before initiating the HLH-2004 treatment protocol. Please remember that genetic test results are one piece of a complex clinical puzzle and should never be interpreted in isolation from the patient's full immunological workup.
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 ≥38.5°C 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/µL) without haematologist clearance
- Patient currently admitted to ICU for acute HLH decompensation — request inpatient phlebotomy coordination
Emergency Red Flags — 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
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 70–90%, and the STXBP2 genotype also informs familial variant screening so that siblings at risk can be identified before they decompensate.
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 9834453 with ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139), ensuring your genomic data remains fully protected under UAE PDPL and Federal Decree-Law No. 41 of 2024 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.
هل يمكن إجراء هذا التحليل الجيني للأطفال دون سن الثامنة عشرة في دولة الإمارات العربية المتحدة؟
نعم، يمكن إجراء تحليل جين STXBP2 للقاصرين في دولة الإمارات وفقاً للضوابط الصارمة المنصوص عليها في قانون الخدمات السريرية التشخيصية لعام 2026 (CDS Law 2026) والذي يتطلب موافقة كتابية من كلا الوالدين أو الوصي القانوني بعد جلسة استشارة وراثية إلزامية موثقة. يتم تنفيذ إجراء سحب الدم للأطفال بواسطة فريق تمريض متخصص في التعامل مع مرضى الأطفال باستخدام تقنيات الحد من الألم، وتكون الأولوية القصوى لسلامة الطفل وراحته النفسية طوال العملية مع الالتزام الكامل بمعايير قانون الخصوصية وحماية البيانات الشخصية لدولة الإمارات (UAE PDPL).
Pre-Test Requirements & Logistics
- Sample Types Accepted: Whole Blood (EDTA tube, 3–5 mL), Extracted DNA (≥1 µg at ≥50 ng/µL), or One Drop Blood on FTA Card (dried blood spot)
- Pre- Mandatory: 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 – 11:00 PM daily across all seven Emirates
- 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
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 — 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 — including erythroderma, purpura, and panniculitis-like lesions — 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.
Federal Decree-Law No. 41 of 2024 (Art. 87) | CDS Law 2026 (Minors) | UAE PDPL Compliant | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139 | DHA Facility License: 9834453
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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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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