Molecular Genetic Achondroplasia ( FGFR3 ) Gene Analysis - NGS
Test Code
MOG18
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 advanced molecular diagnostic technology employed for Achondroplasia (FGFR3) Gene Analysis. Achondroplasia is caused by specific mutations in the FGFR3 gene. NGS allows for comprehensive sequencing of the critical regions (hotspot mutations) within the FGFR3 gene. While the most common mutations (G1138A and G1138C) account for nearly all cases, NGS can reliably detect these and any other less common point mutations or small insertions/deletions that might occur within the analyzed regions. This provides a highly accurate and sensitive approach to identifying the specific genetic defects causing achondroplasia, crucial for definitive diagnosis, confirmation in prenatal cases, 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
30 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.