Molecular Genetic Achondroplasia ( FGFR3 ) Gene Analysis - NGS
Also Known As
FGFR3 Gene Sequencing, Achondroplasia Genetic Test, Fibroblast Growth Factor Receptor 3 Mutation Analysis, FGFR3 NGS Panel, Skeletal Dysplasia Gene Te... Read more
Test Parameters Included
FGFR3 gene mutation analysis (NGS) — detection of pathogenic variants including the common c.1138G>A (p.Gly380Arg) mutation and other rare variants in... Read more
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing) NGS (Next-Generation Sequencing) is the advanced molecular diagnostic technology employed for Achondroplasia (FGFR3) ... Read more
Sample Required
WB EDTA Whole Blood (WB) in EDTA Vacutainer<br/> (A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an a... Read more
Preparation
No specific preparation is typically required for this genetic test.No Fasting Required: Fasting is not necessary for this blood sample collection.No ... Read more
Schedule Report
30 Days
Emergency Report
Yes
Frequently Asked Questions
What does the FGFR3 gene analysis test detect?It detects mutations in the FGFR3 gene, most commonly the c.1138G>A (p.Gly380Arg) variant, which causes ... Read more
Test Description
Test Code
MOG18
- High-end laboratory & medical equipment.
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