Molecular Genetic Osteogenesis Impertecta ( Oi ) Gene Panel - NGS
Test Code
MOG19
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing)
NGS (Next-Generation Sequencing) is the cornerstone technology for the Molecular Genetic Osteogenesis Imperfecta (OI) Gene Panel. This panel targets a group of genes known to be associated with various forms of OI. OI, often called "brittle bone disease," is primarily caused by mutations in genes responsible for collagen production or processing. NGS allows for the simultaneous and comprehensive sequencing of all coding regions (exons) and often critical intronic/splice site regions of these multiple genes. This high-throughput approach can detect a wide spectrum of known pathogenic point mutations, small insertions, deletions, and sometimes even larger copy number variations across all genes on the panel. This provides a highly accurate, comprehensive, and sensitive method for identifying the specific genetic cause of OI, which is crucial for definitive diagnosis, classification of OI type, guiding prognosis, and genetic counseling.
Sample Required
WB EDTA Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
35 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.