Test Price
2,800 AEDโ Home Collection Available
COL1A2 Gene Osteogenesis Imperfecta Genetic Test in UAE | NGS Sequencing | DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via Next Generation Sequencing (NGS) processed through ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all Emirates.
Turnaround Time: 3 to 4 weeks with a clinical progress update provided at the midpoint.
Clinical Guidance: Telephonic post-test result interpretation provided by a DHA-licensed Consultant Medical Geneticist.
Insurance Verification: Direct billing confirmation via WhatsApp: +971 54 548 8731
Price: 2,800 AED โ comprehensive NGS analysis including pre-test genetic counselling.
Test Overview & Methodology
The COL1A2 gene encodes the alpha-2 chain of type I collagen, a critical structural protein in bone, skin, tendons, and connective tissues. Pathogenic variants in COL1A2 are causally linked to Osteogenesis Imperfecta (OI), a heritable connective tissue disorder characterized by bone fragility, skeletal deformities, and in certain subtypes, dentinogenesis imperfecta and blue sclerae. This NGS-based test provides comprehensive sequencing of the COL1A2 gene to identify single nucleotide variants, small insertions and deletions, and splice-site mutations with clinical-grade precision.
The analysis is performed using Illumina-based next-generation sequencing with a minimum read depth of 200x across all coding exons and flanking intronic regions. Variant interpretation follows the 2024 ACMG/AMP guidelines, and all clinically significant findings are confirmed by Sanger sequencing prior to report release.
| Parameter | DNA Labs UAE โ Premium NGS Panel | Standard Alternative (Hotspot PCR Panel) |
|---|---|---|
| Diagnostic Precision | 99.9% โ full gene sequencing with >200x read depth, detects novel variants | ~85โ90% โ targeted mutation hotspots only; misses rare or novel pathogenic variants |
| Methodology | Next Generation Sequencing (NGS) with bioinformatic variant interpretation per ACMG 2024 standards | Sanger sequencing or multiplex PCR โ limited single-exon resolution |
| Turnaround Time | 3 to 4 weeks with interim clinical update at week 2 | 6 to 8 weeks (external reference lab queues) |
| Sample Flexibility | Whole blood (EDTA), extracted DNA, or one drop blood on FTA card | Venous whole blood only; requires cold-chain transport within 24 hours |
| Pre-Test Genetic Counselling | Included โ three-generation pedigree charting and risk assessment | Not included; separate referral required |
| Price (AED) | 2,800 AED | 2,200โ3,200 AED (variable, often excludes counselling) |
Physician Insight & Safety Protocols
"A molecular diagnosis of Osteogenesis Imperfecta through COL1A2 sequencing fundamentally alters the clinical management trajectory. Identifying the precise pathogenic variant enables targeted surveillance for extraskeletal manifestations such as dentinogenesis imperfecta, hearing impairment, and pulmonary function decline. This genetic roadmap empowers clinicians to implement preventive orthopedic interventions, customize physiotherapy regimens, and coordinate multidisciplinary care. My strong recommendation is that every patient and family pair this genetic insight with a comprehensive clinical evaluation including skeletal survey and audiological baseline assessment."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory โ Treatment Continuity
โ Do Not Alter Prescribed Therapy
Genetic test results must never be used as a standalone basis to discontinue, modify, or initiate any medication or treatment protocol. All clinical decisions require evaluation by a DHA-licensed physician within the full context of the patient's medical history, physical examination, and diagnostic imaging findings.
Exclusion Criteria for Mobile Phlebotomy
- Active febrile illness with temperature exceeding 38.5ยฐC โ reschedule after full clinical recovery
- Known coagulopathy or current anticoagulant therapy without written physician clearance
- Severe anemia (hemoglobin below 7 g/dL) or hemodynamic instability
- Patient age under 18 years without documented parental or guardian consent as required under Federal Decree-Law No. 4 of 2016 on Medical Liability
- Recent hematopoietic stem cell transplant or allogeneic blood transfusion within the preceding 90 days, which may confound germline genetic analysis
Emergency Red Flags โ Seek Immediate Medical Attention
- Sudden severe bone pain accompanied by deformity or loss of function โ potential pathological fracture
- Respiratory distress or progressive chest wall deformity โ may indicate vertebral compression fractures
- Acute hearing loss or persistent tinnitus โ requires urgent audiological evaluation
- Headache, dysphagia, or cranial nerve dysfunction โ signs concerning for basilar invagination
Patient FAQ & Clinical Guidance
1. What is the COL1A2 gene and how does it relate to Osteogenesis Imperfecta?
The COL1A2 gene provides instructions for producing the alpha-2 chain of type I collagen, the most abundant structural protein in bone and connective tissues. Pathogenic variants in this gene disrupt collagen triple-helix assembly, leading to reduced bone mineral density, increased fracture risk, and the characteristic clinical features of Osteogenesis Imperfecta. This NGS-based test interrogates the entire coding region and splice sites of COL1A2 to identify disease-causing variants with high diagnostic yield.
2. How accurate is the NGS-based COL1A2 test compared to conventional genetic analysis?
This test achieves 99.9% diagnostic sensitivity and specificity for detecting single nucleotide variants, small insertions and deletions, and canonical splice-site mutations across the COL1A2 gene. Unlike targeted hotspot panels that only examine previously reported mutation sites, full-gene NGS sequencing identifies novel and rare variants that would otherwise be missed. All clinically significant findings are orthogonally confirmed using Sanger sequencing to eliminate false positives before final reporting.
3. What sample types are accepted and how should I prepare for collection?
We accept three sample types for maximum flexibility: (1) venous whole blood collected in EDTA tubes, (2) previously extracted DNA at a minimum concentration of 50 ng/ยตL, or (3) one drop of blood on an FTA card โ particularly convenient for pediatric patients or those in remote locations. A mandatory pre-test genetic counselling session is conducted to obtain informed consent, document a three-generation pedigree, and confirm that the test aligns with the clinical indication. No fasting or special preparation is required; however, patients should inform the phlebotomist of any anticoagulant use.
4. How long does it take to receive results and what does the report include?
The standard turnaround time is 3 to 4 weeks from sample receipt in the laboratory. A clinical progress update is provided at the two-week mark. The final report includes a detailed variant description with genomic coordinates, zygosity, predicted protein-level change, ACMG classification (pathogenic, likely pathogenic, variant of uncertain significance, etc.), population frequency data, and a clinical interpretation section correlating the genetic finding with the reported phenotype. Post-test telephonic counselling with a Consultant Medical Geneticist is included to discuss the results and their implications for the patient and family members.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the collection, processing, and storage of genetic and health-related personal data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields which sets the framework for digital health data security. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted and stored on UAE-sovereign servers with access restricted to authorized clinical personnel. The laboratory operates under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and follows the 2024 ACMG/AMP technical standards for clinical NGS variant interpretation. Pre-test genetic counselling includes a detailed informed consent process that explains data handling policies and the patient's rights under PDPL.
Clinical & Logistical Metadata
| Test Name | COL1A2 Gene Sequencing โ Osteogenesis Imperfecta NGS Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks (interim update at week 2) |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA (≥50 ng/µL), or one drop blood on FTA card |
| Methodology Used | Next Generation Sequencing (NGS) with >200x read depth; Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | Q78.0 |
| LOINC Code | 21661-4 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians