Laboratory Test Information Guide

Details for Thrombophilia (Prothrombin)

Test Name: Thrombophilia (Prothrombin)
Alternate Name(s): Prothrombin Gene
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-1 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature or if prior arrangements have been made with the lab, other tissue samples may be accepted for DNA extraction (i.e. CVS, amniotic fluid, skin etc.)
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: 2016-03-21
Critical Value: N/A
Interpretive Comments: At least five genetic defects1, accounting for approximately 15% of families with inherited thrombophilia, have been established as risk factors for venous thrombosis. Three are protein C, protein S and antithrombin deficiencies, and represent defects in the anticoagulant pathways of blood coagulation. Two other genetic risk factors, resistance to activated protein C associated with the factor V Leiden mutation and increased prothrombin associated with the prothrombin "20210" A allele, are much more prevalent and together can be found in 63% of the thrombophilia families. Heterozygous carrier status of the prothrombin "20210" A allele confers a 2.8-fold increase in the relative risk of a first episode of venous thrombosis3. A simple method of analysis4 of mutations at the "G20210" locus (numbered pThr:c.26784 above; GenBank accession #M17262) in the prothrombin gene utilizes real-time PCR analysis on a Roche LightCyclerTM to analyze the hybridization of fluophore-labelled, amplicon-specific oligonucleotides to a leukocyte-derived genomic DNA template.

*The G26784 (G20210) locus in the prothrombin gene, numbered from the initial ATG of the cDNA coding sequence (GenBank #M17262).


1. Bertina RM. Clin Chem 1997 Sep;43(9):1678-1683
2. Cumming AM, et al. Br J Haematol. 1997 Aug 1; 98(2): 353-355.
3. Bauer (2001) Ann Intern Med 135:367-373
4. van den Bergh F et al (2000) Clin Chem 46:1191-1195
Special Processing:  
Comments: For more information click on:

Molecular Diagnostic Laboratory
Method of Analysis: QT-RT PCR Light Cycler
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:  

Questions? Comments? Contact Laura Gopaul