ARUP's Laboratory Test Directory

Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping : 2004980
[ image for: Patient History For Molecular Genetic Testing]
Patient History For Molecular Genetic Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: PAI-1 GENO

Ordering Recommendation: Assess genetic risk for thrombosis.
Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Mon, Thu
Reported: 7-10 days
Specimen Required: 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.

Stability (collection to initiation of testing): 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
CPT Code(s): 81400
Cross References: FACV (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , PAI (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , PAI-1 (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , Plasminogen Activator (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , PT PCR (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , SERPINE1 (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping) , Thrombotic risk panel (Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping)