Test Price
2,800 AED✅ Home Collection Available
OSTM1 Gene Osteopetrosis, Autosomal Recessive Type 5 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- 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.
Advanced genetic test using high‑sensitivity NGS (99.9%) for the OSTM1 gene, with certified home blood collection and post‑result genetic consultation. All services comply with UAE 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.
Test Overview & Methodology
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.
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 Protocols
“Managing osteopetrosis patients requires precise molecular confirmation to guide treatment decisions, including hematopoietic stem cell transplantation. This NGS panel offers comprehensive coverage of the OSTM1 gene, reducing diagnostic delays. Family cascade screening is strongly advised when a pathogenic variant is identified. Always interpret genetic results alongside clinical and radiological assessments.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
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.
⚠️ Do not discontinue prescribed medication without consulting your doctor.
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.
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.
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.
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.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: All processes adhere to UAE 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 safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Accreditations: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Contact: Home collection booking & insurance verification: WhatsApp +971 54 548 8731. Available daily 8 AM – 11 PM.
Clinical & Logistical Metadata
| Test Name | OSTM1 Gene Osteopetrosis, Autosomal Recessive Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coding Regions & Splice Sites |
| ICD‑10‑CM Code | Q78.2 (Osteopetrosis), Z15.89 (Genetic susceptibility), D81.9 (Combined immunodeficiency) |
| LOINC Code | 93733-7 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians