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Factor V Leiden Mutation
Test CodeFACTOR V LEIDEN (WH)
Alias/See Also
Factor 5 Leiden Mutation
Preferred Specimen
Whole blood lavender EDTA
Instructions
Do no centrifuge or freeze
Transport Temperature
Refrigerate (2-8°C)
Methodology
Roche Light Cycler - Melting Curve Analysis - LDT
This test was developed and its performance characteristics determined by the VACT Healthcare System. It has not been cleared or approved by the FDA. Such approval is not necessary. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988(CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Setup Schedule
Once per week
Report Available
8 Days
Reference Range
Homozygous Normal (Wild-Type)
Clinical Significance
The Factor V Leiden test is a diagnostic test for the detection and genotyping of the Factor V Leiden mutation as an aid to diagnosis in the evaluation of patients with suspected thrombophilia.
Inherited thrombophilia predisposes an individual to thrombotic events such as venous thrombosis, the third most common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. A point mutation at position 1691 of the Factor V gene, referred to as Factor V Leiden mutation, causes an arginine to glutamine substitution at position 506 in the Factor V protein and renders it partially resistant to inactivation by APC. Genetic analysis has demonstrated that this mutation, which has a relatively high prevalence in the general population (e.g., about 5% in Caucasians), accounts for 85% to 95% of APC resistance cases.
Inherited thrombophilia predisposes an individual to thrombotic events such as venous thrombosis, the third most common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. A point mutation at position 1691 of the Factor V gene, referred to as Factor V Leiden mutation, causes an arginine to glutamine substitution at position 506 in the Factor V protein and renders it partially resistant to inactivation by APC. Genetic analysis has demonstrated that this mutation, which has a relatively high prevalence in the general population (e.g., about 5% in Caucasians), accounts for 85% to 95% of APC resistance cases.
Performing Laboratory
Test performed at the VA Connecticut Molecular Diagnostics Laboratory
Contact: Jacqueline Dang 203-932-5711
Ext: 2915/2919
Fax: 203-937-4786
Last Updated: October 28, 2015
