PAI-1 Genotype 5G/4G




Test Mnemonic

PAIGEN

CPT Codes

  • 81400 - QTY (1)

Aliases

  • Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE)Genotyping

Performing Laboratory

ARUP


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodEDTA (Lavender) RefrigeratedSend 3 mL whole blood

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodACD A or B (Yellow) RefrigeratedSend 3 mL whole blood

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1 mL     

Stability

Environmental Condition Description
Refrigerated1 week
Ambient72 hours
Frozen1 month

Days Performed

Mon, Thu

Turnaround Time

8 - 11 days

Methodology

Name Description
Fluorescence Monitoring 
Polymerase Chain Reaction (PCR) 

Reference Range

Special Info

Plasma, serum and frozen specimens in glass collection tubes will be rejected. This test is New York DOH approved.

Clinical Info

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. Background Information: 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. Clinical sensitivity: Unknown. Methodology: Polymerase chain reaction and fluorescence monitoring. Analytical Sensitivity and Specificity: 99%.

Clinical Limitation

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.