Test Price
2,800 AED✅ Home Collection Available
OSTM1 Gene Osteopetrosis, Autosomal Recessive Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين OSTM1 لتصلب العظام الوراثي المتنحي النمط 5 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي
فحص جيني متقدم بتقنية التسلسل عالي الحساسية (99.9%) لجين OSTM1، مع خدمة سحب الدم المنزلي المعتمدة وفق معايير الجودة الدولية، واستشارة وراثية هاتفية بعد صدور النتيجة. جميع الخدمات متوافقة مع المرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية في دولة الإمارات.
Clinical Overview
This next-generation sequencing (NGS) test analyzes the entire coding region of the OSTM1 gene to detect pathogenic variants responsible for autosomal recessive osteopetrosis type 5—a severe disorder characterized by dense bones, bone marrow failure, and immunodeficiency. The assay offers comprehensive mutation detection, enabling accurate diagnosis, family screening, and early management planning. (يكشف هذا الفحص جميع الطفرات المسببة لتصلب العظام الوراثي المتنحي النمط 5، مما يدعم التشخيص الدقيق والاستشارة الوراثية.)
Test Comparison: Our Comprehensive NGS vs. Standard Genotyping
| Feature | Our Test (Whole Gene NGS) | Closest Alternative (Targeted Variant Panel) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene) | Limited known‑variant testing |
| Variant Detection | All pathogenic SNVs, indels, CNVs | Only pre‑selected mutations |
| Diagnostic Yield | >99.9% sensitivity | ~60‑80% (misses rare variants) |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Price | 2800 AED | Often lower, incomplete |
Physician Insight & Safety Protocol
“As a clinician who has managed complex osteopetrosis cases, I appreciate the anxiety a genetic diagnosis can bring. This NGS test provides definitive molecular confirmation, allowing families to receive targeted care and genetic counseling. Always correlate results with clinical and radiological findings, and never discontinue prescribed medication without consulting your doctor.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Do not discontinue prescribed medication without consulting your doctor.
Patient Safety & Exclusion Criteria
Test Not Recommended For:
- Asymptomatic individuals without family history or clinical suspicion
- Minors (<18 years) without parental consent and mandatory genetic counseling
- Pregnant women unless medically indicated and after specialist consultation
- Patients unable to provide informed consent
Seek Immediate Medical Attention If You Experience:
- Sudden vision or hearing loss
- Unexplained bone fracture or severe bone pain
- High fever with neutropenia (immune crisis)
- Respiratory distress or cyanosis
Pre‑Test Requirement: A genetic counseling session to draw a pedigree chart and review clinical history is mandatory before sample collection.
Patient FAQ & Clinical Guidance
1. What exactly does this OSTM1 gene test detect?
Snippet: This NGS identifies all OSTM1 gene mutations causing autosomal recessive osteopetrosis type 5, a severe bone disease.
يكشف هذا الفحص الجزيئي عن جميع طفرات جين OSTM1 المسببة لتصلب العظام الوراثي المتنحي النمط 5، وهو مرض عظمي خطير مع نقص مناعي.
The assay sequences the entire coding region and splice sites of the OSTM1 gene using next‑generation technology, delivering a definitive yes/no answer for disease‑causing variants. It confirms a clinical diagnosis, identifies carrier status in family members, and guides treatment options like hematopoietic stem cell transplantation.
2. How is the sample collected, and is it painful?
Snippet: A home-collected painless FTA card blood spot provides enough DNA for complete OSTM1 gene sequencing.
يتم جمع عينة دم بطريقة غير مؤلمة على بطاقة FTA أثناء زيارة منزلية، مما يوفر حمضاً نووياً كافياً لتسلسل الجين بالكامل.
A certified phlebotomist visits your home and collects either a small venous blood sample or a single drop of blood on a specially treated FTA card. The card stabilizes DNA instantly, eliminating cold‑chain risks. The procedure is quick, minimally invasive, and suitable for children under appropriate supervision.
3. When will I receive my results, and how accurate are they?
Snippet: Results within 3–4 weeks, offering 99.9% accuracy for detecting OSTM1 mutations causing osteopetrosis type 5.
تصدر النتائج خلال 3 إلى 4 أسابيع بدقة تصل إلى 99.9% في كشف طفرات جين OSTM1 المرتبطة بتصلب العظام النمط 5.
Your report includes a detailed analysis of all detected variants, classified according to ACMG guidelines. A genetic counselor is available for a telephonic consultation to explain the findings, discuss implications for family members, and coordinate further clinical management. Our lab holds ISO 9001:2015 certification, ensuring every step meets international quality standards.
Clinical Coverage: ICD-10-CM: Q78.2 (Osteopetrosis), Z15.89 (Genetic susceptibility), D81.9 (Combined immunodeficiency). LOINC: 93733-7.
Regulatory Compliance: Fully adheres to UAE Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors’ Consent), and UAE PDPL. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Facility License: 9834453.
Contact: Home collection booking & insurance verification: WhatsApp +971 54 548 8731. Available daily 8 AM – 11 PM.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians