Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping
Ordering Recommendation
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.
New York DOH Approval Status
Specimen Required
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Methodology
Polymerase Chain Reaction (PCR)
Fluorescence Monitoring
Performed
Mon, Thu
Reported
7-10 days
Reference Interval
By report
Interpretive Data
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.
Laboratory Developed Test (LDT)
Note
Hotline History
CPT Codes
81400
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2004981 | PAI-1 Specimen | 31208-2 |
2004982 | PAI-1 Interpretation | 60577-4 |
Aliases
- FACV
- PAI
- PAI-1
- Plasminogen Activator
- PT PCR
- SERPINE1
- Thrombotic Risk Panel