Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping
2004980
Ordering Recommendation
Assess genetic risk for thrombosis.
Mnemonic
PAI-1 GENO
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Mon, Thu
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81400
Components
Component Test Code*Component Chart NameLOINC
2004981PAI-1 Specimen31208-2
2004982PAI-1 Interpretation60577-4
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • FACV
  • PAI
  • PAI-1
  • Plasminogen Activator
  • PT PCR
  • SERPINE1
  • Thrombotic risk panel