Test Price
2,800 AED✅ Home Collection Available
PLOD2 Gene Sequencing Test for Osteogenesis Imperfecta with Congenital Joint Contractures (Bruck Syndrome Type 2) in UAE
Executive Summary & Core Metrics
Our laboratory offers the most comprehensive PLOD2 gene test using next-generation sequencing (NGS) with a diagnostic accuracy of 99.9%, ISO 9001:2015 certified, and fully compliant with DHA regulations. The test is priced at 2,800 AED and includes:
- Turnaround Time: 3–4 weeks
- Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM)
- Post-Test Counseling: One-on-one telephonic genetic counselling session
- Data Protection: All personal data processed under Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019
- Insurance Verification: WhatsApp +971545488731
Test Overview & Methodology
This NGS test sequences the entire coding region and splice sites of the PLOD2 gene to detect pathogenic variants that cause Osteogenesis Imperfecta with Congenital Joint Contractures (Bruck syndrome type 2). It is the most comprehensive molecular method to confirm the diagnosis in patients presenting with recurrent fractures, limb deformities, and fixed joint contractures. The test is performed on peripheral whole blood, and pre-test genetic counselling is mandatory to draw a detailed family pedigree and obtain informed consent.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Methodology | Next-Generation Sequencing validated on Illumina NovaSeq with LC‑MS/MS confirmation | Sanger sequencing of a few known exons only |
| Diagnostic Precision | 99.9% sensitivity for all variant types including novel mutations | ~60% sensitivity; misses novel or deep intronic variants |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (if custom primers needed) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403): "As your diagnostic partner, I recognise the emotional weight of a genetic test. A positive PLOD2 result provides critical clarity, but it must be correlated with a full clinical examination, family history, and imaging. No single laboratory finding defines the complete picture of your child's health. Our team ensures that every result is interpreted within the context of the individual patient."
⚠️ Medication Advisory
Do not discontinue any prescribed medication, including bisphosphonates or calcium supplements, without consulting your doctor. Abrupt changes may increase fracture risk or worsen symptoms.
🛑 Exclusion Criteria & Emergency Red Flags
- Exclusion: Patient or guardian does not provide informed consent; pre‑test genetic counselling not completed; specimen haemolysed or insufficient DNA quantity.
- Emergency Red Flags: New onset rib fractures causing respiratory distress, sudden limb deformity with severe pain, inability to move a limb, or fever with suspected infection. Seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the PLOD2 gene test and how is it performed?
The PLOD2 gene test uses next-generation sequencing to detect PLOD2 mutations causing osteogenesis imperfecta with joint contractures. It requires a simple blood draw from the arm (or a drop of blood on an FTA card for infants). Pre‑test genetic counselling is mandatory to document family history and obtain consent. The sample is securely couriered to our DHA-licensed laboratory in Dubai Healthcare City.
2. Are there any special preparations needed before the test?
No fasting or special diet is required. However, pre‑test genetic counselling is mandatory to document the family pedigree and discuss test implications. Continue all current medications unless your physician advises otherwise. For children, a parent or guardian must provide written consent.
3. How long do results take and what does a positive result mean?
Results are typically ready in 3 to 4 weeks. A positive result confirms a pathogenic PLOD2 mutation, enabling precise genetic counselling, management of fractures and contractures, and family planning. Your physician will explain the next steps including medication adjustments and surveillance. All results are delivered with a post‑test counselling session.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All personal genetic data is processed in strict compliance with the 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. Patient consent is obtained prior to any sample processing, and clinical safety is governed under Federal Decree-Law No. 4 of 2016 on Medical Liability. Your results remain confidential and are shared only with your designated physician and genetic counsellor.
Clinical & Logistical Metadata
| Test Name | PLOD2 Gene Sequencing for Osteogenesis Imperfecta with Congenital Joint Contractures (Bruck Syndrome Type 2) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card for infants. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding regions and splice sites, validated on Illumina NovaSeq with LC‑MS/MS confirmation |
| ICD-10-CM Code | Q78.0 (Osteogenesis imperfecta) |
| LOINC Code | 55233-1 (Genetic analysis for inherited disorder) |
| 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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