Laboratory Test Information Guide

Details for Thrombophilia (associated with Factor V deficiency)

Test Name: Thrombophilia (associated with Factor V deficiency)
Alternate Name(s): Factor V
Familial Thrombophilia
Prothrombin/Factor V Prothrombin
Laboratory: Molecular Diagnostics
Specimen Type: 1 x 4 mL K2 or K3 EDTA Lavender top Vacutainer tube-may be a frozen aliquot.
Collection Information: Blood samples may be maintained at room temperature or a frozen aliquot is also acceptable.
Test Schedule: As Required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
4 weeks
Reference Range: See report
Effective Date:  
Revised Date: 2021-05-14
Critical Value: N/A
Interpretive Comments: Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. It has been suggested that a point mutation in the gene coding for factor V is responsible for APC resistance (PMID:7909098, 8208267). This point mutation, (F5:c.1601G>A), occurring towards the 3' end of exon 10 of the factor V gene, is predicted to cause a missense mutation in the APC cleavage site, (F5:p.Arg534Gln) and confers an increase in the relative risk of a first episode of venous thrombosis of x7 for heterozygote carriers, x35 for heterozygote carriers taking oral contraceptive medication, and x80 for individuals homozygous for the Factor V Leiden mutation(PMID:11529700).
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory
Method of Analysis: Analysis of FV Leiden mutation at the 1601G locus utilizes an Agena iPLEX custom panel followed by SpectroCHIP® Array detection using the MassARRAY System (Agena)
Critical Information Required:  
Storage & Shipment: Must be received in testing laboratory within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Referred To:  

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