Test Price
2,800 AED✅ Home Collection Available
TNFSF11 Gene Sequencing – Autosomal Recessive Osteopetrosis Type 2 Diagnostic Test in UAE | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary & Core Metrics
- Diagnostic Accuracy: >99.9% sensitivity and specificity for SNVs and indels in TNFSF11, achieved through high-coverage next-generation sequencing.
- Logistics: Complimentary VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Integration: Post-test telephonic consultation with a DHA-licensed Consultant Medical Geneticist (Dr. Lina Osama Zaki Quteineh, DHA ID: 9294403) for comprehensive result interpretation and family risk stratification.
- Pricing: 2,800 AED (inclusive of genetic counselling, NGS sequencing, bioinformatics analysis, and a signed clinical report). Direct-billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TNFSF11 gene provides instructions for making RANKL, a protein essential for the formation of osteoclasts. Biallelic loss-of-function pathogenic variants in TNFSF11 cause autosomal recessive osteopetrosis type 2, characterized by dense, brittle bones, bone marrow failure, and neurological impairment. Our assay utilizes Illumina NovaSeq X technology to sequence all coding exons and splice junctions, providing a definitive molecular diagnosis critical for clinical management and hematopoietic stem cell transplantation eligibility.
| Feature | DNA Labs UAE NGS Panel | Standard Sanger Sequencing |
|---|---|---|
| Precision | >99.9% sensitivity for SNVs/indels; includes MLPA-backed CNV analysis. | ~98% sensitivity; limited to single-exon resolution, high false-negative rate for large deletions. |
| Methodology | Dual-indexed library preparation, 100bp paired-end reads on NovaSeq X. | Capillary electrophoresis, bidirectional Sanger chemistry. |
| Turnaround | 15–20 business days. | 28–42 days, often requiring sequential batch processing. |
| Clinical Utility | Single-test molecular confirmation, immediate cascade testing potential. | Multi-step process, higher cumulative cost and DNA requirement. |
Physician Insight & Safety Protocols
Insight from Consultant Medical Genetics – Dr. Lina Osama Zaki Quteineh (DHA ID: 9294403):
"Confirming a molecular diagnosis for osteopetrosis is a pivotal step in the clinical pathway. A negative TNFSF11 result should prompt investigation of other osteopetrosis-associated genes. I strongly recommend pre-test genetic counselling to document a comprehensive three-generation pedigree and establish realistic expectations regarding the potential for hematological or neurological complications. This test is an indispensable tool for guiding therapeutic decisions."
Clinical Advisory & Pre-Test Requirements
Pre-Test Genetic Counselling
A mandatory telephonic or in-clinic genetic counselling session is required to document a three-generation pedigree and identify at-risk relatives. This ensures appropriate variant interpretation and facilitates cascade testing where indicated.
Sample Collection Advisory
No special preparation or fasting is required. Specimen options include 3 mL whole blood in EDTA, 1 µg extracted DNA in TE buffer, or a dried blood spot on FTA card. Our mobile phlebotomy team is trained in gentle pediatric techniques for infant sampling.
Exclusion Criteria & Red Flags
Home Collection Exclusion Criteria
- Coagulopathy: INR > 2.0 or platelet count < 50 x 10⁹/L. Such patients must have samples drawn at a hospital facility.
- Active Febrile Illness: To avoid contamination and ensure patient safety.
- History of Severe Vasovagal Syncope: Requires a clinical setting with emergency equipment.
Emergency Red Flags (Seek Immediate Care)
- Sudden vision loss or proptosis (optic nerve compression).
- Acute severe bone pain with neurological deficit (spinal cord impingement).
- Fever > 38.5°C, pallor, or respiratory distress (acute anaemia or sepsis).
⚠️ Do not discontinue prescribed medication without consulting your treating physician. Genetic testing results do not alter acute treatment protocols.
Patient FAQ & Clinical Guidance
1. What is the purpose of the TNFSF11 gene test?
This test identifies pathogenic variants in the TNFSF11 gene responsible for autosomal recessive osteopetrosis type 2. Achieving a precise molecular diagnosis enables clinicians to develop a targeted management plan, evaluate eligibility for hematopoietic stem cell transplantation, and provide accurate recurrence risk counselling for family planning.
2. How is the sample collected for this genetic test?
A trained phlebotomist can collect a standard 3 mL whole blood sample in an EDTA tube at your home or our partner clinics. For infants, a heel-prick blood spot on an FTA card is available to minimize discomfort. Extracted DNA samples and FTA cards can be sent via secure medical courier. Our VIP mobile phlebotomy service operates daily from 8 AM to 11 PM.
3. Will my health insurance cover the cost of this test?
Most UAE-based health insurance providers cover medically indicated genetic tests when ordered by a licensed physician. We offer instant direct-billing verification via WhatsApp (+971 54 548 8731). For self-pay patients, the cost is 2,800 AED, and we provide a detailed invoice that can be submitted for insurance reimbursement.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- Data Privacy: All genetic data is processed and stored in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Data is stored on UAE-based servers and accessed only with explicit, written patient consent.
- Health Information Governance: Our laboratory infrastructure and digital health protocols comply with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient safety and informed consent protocols adhere to the standards set forth in Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License Number: 1143.
Clinical & Logistical Metadata
| Parameter | Details |
|---|---|
| Test Name | TNFSF11 Gene Sequencing – Autosomal Recessive Osteopetrosis Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 15 – 20 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (TE buffer), Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X, 100bp Paired-End Reads, Dual-Indexed Libraries |
| ICD-10-CM Code | Q78.2 |
| LOINC Code | 88515-7 |
| DHA Facility License & Address | License No: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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