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Test Name:
Plasminogen Activator Inhibitor-1 4G/5G Polymorphism Detection
- SBMF No:
36160 - Performance Lab Name:
Flow Cytometry/Molecular Pathology - Test Mnemonic:
PAI1 GENO - ABN:
Required – "Research Use Only" - CPT Code:
83891; 83896x2; 83898; 83912 - LOINC Code:
52757-2 - Also Known As:
PAI-1 4G/5G Polymorphism Detection
PAI-1 Genotype - Spec Type:
Whole blood - Spec Container:
Lavender top (EDTA) or Pale Yellow top (ACD-A or B) tube - Pref Vol:
5.0 mL - Min Vol:
3.0 mL - Fasting:
No - Spec Collect:
Routine venipuncture - Spec Process:
Gently invert tube to mix blood with the anticoagulant
Do not centrifuge
Do not remove plasma from cells
Forward entire tube of unprocessed whole blood to the laboratory - Spec Store Transport:
Room temperature - Spec Stability:
3 days room temperature (20-30°C)
14 days refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Spec Reject:
Frozen specimen - Methodology:
Polymerase Chain Reaction (PCR) - Clinical Significance:
Plasminogen activator inhibitor-1 (PAI-1) is the major inhibitor of tissue type plasminogen activator (tPA). Reduced fibrinolytic capacity due to increased plasma PAI-1 levels was postulated to play an important role in the pathogenesis of disorders associated with thrombosis. Recently, a common functional deletion/insertion polymorphism (4G/5G) in the promoter of the PAI-1 gene located 675 bp upstream from the transcription start site was reported to result in the elevated expression of PAI-1 gene. Individuals homozygous for the 4G allele had increased plasma PAI-1 concentrations compared to the ones with 5G allele.
The lowest levels of PAI-1 occur in those subjects with the 5G/5G genotype, intermediate levels in 4G/5G subjects, and the highest levels in 4G/4G subjects. Individuals with the 4G/4G genotype have plasma PAI-1 concentrations that are 25% higher than those with the 5G/5G genotype. Prevalence of 4G/4G, 4G/5G, and 5G/5G genotypes were 31.8%, 46.6% and 21.6%, respectively.
- Reference Range:
By report - Additional Test Info:
A reagent that is designated by the manufacturer as "for research use" is used for this test. Its performance was established and confirmed by the South Bend Medical Foundation. This test is not cleared or approved by the U.S. Food and Drug Administration. The results are not intended to be used as the sole means for clinical diagnosis and patient monitoring. The South Bend Medical Foundation is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
- Test Type:
GENETIC
