Screens for genetic susceptibility for venous thromboembolism (VTE) or myocardial infarction (MI) in individuals with a personal or family history of thrombotic events. Aids risk/benefit assessment for preventive or therapeutic interventions for VTE or MI.
Polymerase Chain Reaction/Fluorescence Monitoring
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Background Information: Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping:
Characteristics: The 4G allele within in the promoter region of the PAI-1 (SERPINE1) gene is associated with higher plasma PAI-1 activity when compared with the 5G allele. Heterozygosity or homozygosity for the 4G allele confers a risk for venous thromboembolism (VTE), especially in individuals with other thrombophilic risk factors, as well as a risk for myocardial infarction.
Frequency of the 4G Allele: Caucasian 0.52, Hispanic 0.38, African-American 0.13-0.28.
Variant Tested: The PAI-1 promoter 4G/5G polymorphism located in the promoter region of the SERPINE1 gene. NM_000602.3(SERPINE1) c.-817dupG (from start of translation).
Inheritance: Autosomal dominant.
Clinical sensitivity: Unknown.
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Variants in the PAI-1 (SERPINE1) gene, other than the 4G/5G polymorphism, are not evaluated. Diagnostic errors can occur due to rare sequence variations.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
- Plasminogen Activator
- PT PCR
- Thrombotic Risk Panel