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. Rare diagnostic errors may occur due to primer and probe site mutations.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81400
Components
Component Test Code*Component Chart Name
2004981PAI-1 Specimen
2004982PAI-1 Interpretation
* 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.
Cross References
  • FACV
  • PAI
  • PAI-1
  • Plasminogen Activator
  • PT PCR
  • SERPINE1
  • Thrombotic risk panel