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Factor V Leiden 1691A Mutation Analysis
Test CodeFACT5
Alias/See Also
LAB0000111
CPT Codes
81241
Preferred Specimen
5mL whole blood collected in EDTA (lavender-top) tube
Minimum Volume
3mL
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 24 hours
Refrigerated: 15 days
Frozen: 30 days
Refrigerated: 15 days
Frozen: 30 days
Methodology
polymerase chain reaction (PCR)
Setup Schedule
Daily
Report Available
Same day
Clinical Significance
The association of Factor V Leiden (G1691A) mutations with an increased risk for venous thrombosis has been well documented.
Factor V c.1601G>A (p.Arg534Gln) was previously designated as G1691A or Arg506Gln and is commonly referred to as Factor V Leiden or FVL5, or as in the Xpert Factor II & Factor V test, as Factor V (G1691A).
Factor V Leiden (G1691A) refers to the G to A transition at nucleotide position 1691 of the Factor V gene, resulting in the substitution of the amino acid arginine by glutamine in the Factor V protein, causing resistance to cleavage by Activated Protein C (APC).
Factor V Leiden (G1691A) mutations are present in 5% of the general population.
Factor V c.1601G>A (p.Arg534Gln) was previously designated as G1691A or Arg506Gln and is commonly referred to as Factor V Leiden or FVL5, or as in the Xpert Factor II & Factor V test, as Factor V (G1691A).
Factor V Leiden (G1691A) refers to the G to A transition at nucleotide position 1691 of the Factor V gene, resulting in the substitution of the amino acid arginine by glutamine in the Factor V protein, causing resistance to cleavage by Activated Protein C (APC).
Factor V Leiden (G1691A) mutations are present in 5% of the general population.
Performing Laboratory
Penn Medicine Lancaster General Health
