Test Price
2,800 AED✅ Home Collection Available
TNFSF11 Gene Osteopetrosis, Autosomal Recessive Type 2 Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين TNFSF11 للكشف عن تخلخل العظام الوراثي المتنحي من النوع الثاني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% diagnostic sensitivity through ISO 9001:2015‑certified next‑generation sequencing, targeting all TNFSF11 coding exons and splice junctions.
- Premium Logistics: DHA‑approved home collection (8 AM–11 PM) with cold‑chain transport, VIP mobile phlebotomy, and blood/DNA/FTACard options.
- Clinical Guidance: Complimentary telephonic post‑test consultation with a DHA‑licensed genetic counsellor for result interpretation and family risk assessment.
- Insurance: Instant direct‑billing verification via WhatsApp +971 54 548 8731 – most UAE payers accepted.
الملخص التنفيذي
- ضمان الدقة: حساسية تشخيصية تصل إلى 99.9% عبر تقنية التسلسل الجيني عالي الإنتاجية (NGS) المعتمدة بموجب ISO 9001:2015.
- خدمة لوجستية متميزة: سحب منزلي على مدار الساعة بنظام سلسلة التبريد، مع خيارات الدم الكامل أو الحمض النووي المستخلص أو بقعة دم على بطاقة FTA.
- استشارة إكلينيكية: جلسة هاتفية مجانية بعد النتيجة مع مستشار جينات مرخص من هيئة الصحة بدبي لتفسير النتائج وتقييم المخاطر العائلية.
- التأمين: التحقق الفوري من تغطية التأمين عبر واتساب على الرقم +971 54 548 8731.
Test Overview
The TNFSF11 gene encodes RANKL, a master regulator of osteoclast formation; biallelic loss‑of‑function variants cause infantile malignant osteopetrosis (AR type 2), marked by dense bones, marrow failure, and hepatosplenomegaly. This high‑coverage NGS assay interrogates all coding exons (±10 bp flanking introns) of TNFSF11, delivering a definitive molecular diagnosis that guides haematopoietic stem‑cell transplantation and genetic counselling.
| Feature | Our NGS Test (TNFSF11) | Nearest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99% sensitivity for SNVs/indels; MLPA‑complemented CNV detection | ~98% sensitivity; limited to single‑exon resolution |
| Methodology | Illumina NovaSeq X with dual‑indexed libraries, 100 bp paired‑end reads | Capillary electrophoresis, bidirectional Sanger |
| Turnaround | 15–20 business days (3–4 weeks) | 28–42 days, often requiring sequential exon sequencing |
| Regulatory | DHA‑compliant (Fac. Lic. 9834453), ISO 9001:2015, PDPL | Variable laboratory accreditation |
Physician Insight & Safety Protocol
Note from Dr. PRABHAKAR REDDY, DHA Licence 61713011:
“A negative TNFSF11 result does not exclude other forms of osteopetrosis, so clinical‑radiological correlation remains paramount. Because this is an autosomal recessive disorder, I always recommend pre‑test counselling to draw a detailed pedigree and prepare families for potential haematological emergencies. Please never stop any prescribed therapy (e.g., corticosteroids, erythropoietin) without first discussing with your treating physician.”
⚠️ Safety Directive
- Exclusion Criteria for Home Collection: Known coagulopathy (INR >2.0, platelets <50 × 10⁹/L), active febrile infection, or a history of severe vasovagal syncope; such patients should attend a hospital‑based draw.
- Emergency Red Flags (seek immediate emergency care):
- Sudden vision loss or proptosis (optic nerve compression)
- Acute severe bone or back pain with new neurological deficit (spinal cord impingement)
- Fever >38.5 °C, pallor, or respiratory distress (acute anaemia or sepsis)
- Medication Alert: Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not alter current treatment in the acute setting.
Pre‑Test Information & Logistics
- Sample Options: 3 mL whole blood in EDTA (purple top), 1 µg extracted DNA in TE buffer, or one drop of blood on an FTA card (dried at room temperature). No fasting is required.
- Clinical Preparation: A mandatory genetic counselling session (in‑clinic or telephonic) must be completed to document a three‑generation pedigree and identify any family members affected by osteopetrosis. This ensures appropriate variant interpretation and cascade testing recommendations.
- Turnaround Time: 3–4 weeks (15–20 business days) from receipt of a duly filled consent form and sample.
- Price: 2,800 AED, inclusive of counselling, sequencing, bioinformatics analysis, and a signed clinical report.
Patient FAQ & Clinical Guidance
Q1: What does this test look for, and how can it help my child?
Snippet — This test reads the entire TNFSF11 gene to find faulty mutations that cause autosomal recessive osteopetrosis type 2, enabling early diagnosis and life‑saving bone marrow transplant planning.
Early molecular confirmation allows the medical team to evaluate haematopoietic stem‑cell transplantation eligibility, monitor for neurological complications, and offer accurate genetic counselling to your family.
س1: ما الذي يبحث عنه هذا الاختبار وكيف يساعد طفلي؟ — يقرأ هذا الاختبار جين TNFSF11 بالكامل للكشف عن الطفرات المسببة لتخلخل العظام الوراثي المتنحي من النوع الثاني، مما يتيح التشخيص المبكر والتخطيط لزراعة النخاع العظمي المنقذة للحياة.
Q2: How is the sample collected, and is it painful for infants?
Snippet — A trained paediatric phlebotomist performs a gentle venous draw using a butterfly needle, or we can use a heel‑prick FTA card for minimal discomfort.
Our home‑collection team specialises in paediatric care; the process takes less than three minutes, and distraction techniques are used to ease the experience.
س2: كيف تُسحب العينة وهل هي مؤلمة للرضع؟ — يقوم فني متمرّس في سحب دم الأطفال بعملية سحب وريدي لطيف باستخدام إبرة فراشة، أو يمكننا استخدام بطاقة FTA بوخزة كعب لتقليل الانزعاج.
Q3: Will insurance cover the cost, and what if I don’t have insurance?
Snippet — Most UAE insurers cover medically indicated genetic tests when accompanied by a referral; we verify your coverage instantly via WhatsApp and offer flexible self‑pay options.
If self‑pay, we provide an itemised invoice that can be submitted for reimbursement; our team assists with all paperwork.
س3: هل يغطي التأمين تكلفة الفحص وماذا أفعل إذا لم أكن مؤمّناً؟ — تغطي معظم شركات التأمين في الإمارات الفحوصات الجينية المبرّرة طبياً بوجود تحويل طبي، ونتحقق من التغطية عبر واتساب فوراً، كما نوفر خيارات دفع ميسّرة للحالات الخاصة.
Legal Compliance: This adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87) on medical testing, the 2026 Minor Consent for Diagnostic Services (CDS Law), and the UAE Personal Data Protection Law (PDPL). All genetic data is stored within UAE‑based servers, accessed only with explicit patient consent.
Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). Facility Licence No. 9834453. DHA‑registered laboratory under Thyrocare Gulf Laboratory.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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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All reports reviewed by DHA-Certified physicians