Test Price
2,800 AED✅ Home Collection Available
IFITM5 Gene Osteogenesis Imperfecta Type 5 Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Analysis
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 15189 accredited next-generation sequencing with Sanger confirmation.
- Specimen Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all Dubai and Northern Emirates locations.
- Post-Test Support: Mandatory tele-genetic counseling session for all positive findings with a board-certified medical geneticist.
- Insurance & Billing: Direct billing verification and cashless options available through WhatsApp +971 54 548 8731.
Test Overview & Methodology
The IFITM5 targeted sequencing assay detects pathogenic variants in the IFITM5 gene responsible for autosomal dominant Osteogenesis Imperfecta type 5, a heritable connective tissue disorder characterized by bone fragility, recurrent fractures, and distinctive hyperplastic callus formation. This molecular test provides definitive genotype-phenotype correlation, enables cascade family screening, and directly informs orthopedic and bisphosphonate management planning in accordance with international clinical consensus.
| Feature | Our IFITM5 NGS Test | Closest Alternative (WES) |
|---|---|---|
| Methodology | NGS with Sanger confirmation | Whole Exome Sequencing |
| Sample Type | Whole blood, FTA card, extracted DNA | Blood (EDTA) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (AED) | 2,800 | 5,000–7,000 |
| Clinical Focus | Targeted IFITM5, high specificity | Broader, may yield VUS |
Physician Insight & Safety Protocols
As a Consultant Medical Genetics specialist, I routinely counsel families navigating the diagnostic odyssey of heritable bone fragility disorders. The IFITM5 targeted sequencing assay delivers a crisp molecular answer in a clinical landscape where timely diagnosis directly alters fracture prevention strategies and surgical planning. I emphasize that any pathogenic finding must be correlated with radiographs and clinical phenotyping by a multidisciplinary bone dysplasia team before initiating therapy. Genetic counseling for at-risk relatives is strongly recommended.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice for Patients and Caregivers
Genetic test results carry life-long implications for the patient and their biological relatives. A positive IFITM5 result confirms Osteogenesis Imperfecta type 5 and should prompt a structured care pathway including orthopedic surveillance, physiotherapy assessment, and evaluation for bisphosphonate therapy under specialist supervision. Patients should never alter or stop prescribed medications, including bisphosphonates or calcium supplements, without direct consultation with their treating physician.
Exclusion Criteria & ER Red Flags
Blood collection is contraindicated in individuals with severe coagulopathy, uncorrected bleeding diathesis, or known allergy to phlebotomy materials where no suitable alternative exists. Informed consent must be documented before any specimen collection. Emergency red flags requiring immediate medical evaluation include: sudden severe bone pain accompanied by swelling or limb deformity, acute respiratory distress due to thoracic wall deformity, and new-onset neurological symptoms such as extremity numbness, weakness, or loss of bladder or bowel control.
Patient FAQ & Clinical Guidance
1. What does the IFITM5 NGS test detect, and how accurate is it for Osteogenesis Imperfecta type 5?
This targeted sequencing test detects pathogenic single-nucleotide variants and small insertions or deletions in the IFITM5 gene with over 99 percent analytical sensitivity. All clinically significant findings are confirmed by Sanger sequencing to eliminate false positives. When correlated with radiographic evidence of hyperplastic callus formation and clinical fragility, a positive result provides definitive diagnosis of Osteogenesis Imperfecta type 5. Results are interpreted by board-certified clinical molecular geneticists following current ACMG standards and guidelines.
2. How do I prepare for the IFITM5 genetic test, and do I need genetic counseling?
No special preparation such as fasting is required. However, a pre-test genetic counseling session is mandatory to document a three-generation pedigree and discuss the scope of results, including the possibility of secondary findings. Our clinical coordinator will schedule a telehealth counseling appointment before sample collection and a post-test consultation after results are released to ensure you fully understand the implications for yourself and your family members.
3. What do the results mean, and what are the next steps after a positive IFITM5 test?
A positive result confirms the diagnosis of Osteogenesis Imperfecta type 5 and initiates a multidisciplinary management plan involving orthopedics, physical medicine and rehabilitation, and metabolic bone specialist review. Bisphosphonate therapy may be indicated to reduce fracture incidence. A negative result rules out IFITM5-related disease but does not exclude other forms of Osteogenesis Imperfecta; further genetic testing through a skeletal dysplasia gene panel or whole exome sequencing may be considered. In all scenarios, our clinical genetics team provides a structured post-test consultation and coordinates referrals to UAE-based bone dysplasia specialists.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and complies fully with 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. All genetic data are encrypted, stored on UAE-sovereign servers, and never shared with third parties without explicit written patient consent. Clinical laboratory safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Patients retain the right to access, correct, and request deletion of their personal data in accordance with PDPL Article 9.
Clinical & Logistical Metadata
| Test Name | IFITM5 Gene Sequencing for Osteogenesis Imperfecta Type 5 |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks from sample receipt in laboratory |
| Sample Type / Matrix | Whole blood (EDTA), FTA card, or extracted genomic DNA |
| Methodology Used | Targeted next-generation sequencing with Sanger confirmation |
| ICD-10-CM Code | Q78.0 |
| LOINC Code | 21637-0 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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