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Evolving methods for single nucleotide polymorphism detection: Factor V Leiden mutation detection
1Molecular Biotechnology Research Laboratory, Boston University, Boston, MA, USA. hoh@bu.edu
Journal of Clinical Laboratory Analysis
|July 26, 2011
Summary
Factor V Leiden (FVL) mutation diagnosis involves diverse protein and DNA methods. Laboratory choice depends on expertise, equipment, and other genetic tests performed.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Factor V Leiden (FVL) mutation is the most prevalent hereditary hypercoagulation disorder in Eurasian populations.
- Diagnosis of FVL mutation is a frequently requested genetic test, reflecting evolving diagnostic strategies.
Purpose of the Study:
- To discuss molecular methods for diagnosing the Factor V Leiden (FVL) mutation.
- To provide an overview of current protein and DNA-based diagnostic techniques.
Main Methods:
- Review of protein-based assays: functional activated protein C resistance coagulation test and antibody-mediated sensor detection.
- Discussion of DNA-based assays: electrophoretic fractionation, hybridization, polymerase-chain-reaction (PCR), sequencing, and ligase-based methods.
Main Results:
- A wide array of protein and DNA-based diagnostic methods are available for FVL mutation detection.
- Techniques range from conventional coagulation tests to advanced molecular assays like real-time PCR and pyrosequencing.
Conclusions:
- Laboratory selection of an FVL diagnostic method is influenced by technical expertise and available equipment.
- The scope of other genetic disorders diagnosed within the laboratory also impacts the choice of FVL testing methodology.
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