Test Directory
Plasminogen Activator Inhibitor Activity (PAI-1) Gene Sequencing
Justification
The SERPINE1 gene codes for plasminogen activator inhibitor 1 (PAI-1). Reductions in PAI-1 can lead to bleeding problems while elevated levels of PAI-1 may increase the risk of thrombotic events. Genetic variants can shift PAI-1 levels in either direction, depending on the nature of the variant.
STAT: < 48 hours (M-F)
NGS
Draw Tube: Purple Top
Sample Type: EDTA Whole Blood
Specimen Requirements
Sample Type | Volume Required | Minimum Volume | Stability | |
---|---|---|---|---|
PREFERRED | EDTA Whole Blood | 3mL | 1mL | Room Temp.: 1 month Refrigerated: 1 month |
ALTERNATIVE | Cheek swab | 2 swab | - | Room Temp.: 1 month Refrigerated: 1 month |
REJECTION CRITERIA | Sample contamination; sample compromised |
SPECIAL INSTRUCTIONS | - |
General Information
METHODOLOGY | NGS |
STAT TAT | < 48 hours (M-F) |
STAT TAT Performance | > 90% of results released in 48 hours |
ROUTINE TAT | < 5 days (M-F) |
ALTERNATIVE NAMES | SERPINE1 gene sequencing, PAI-1 sequencing |
DESCRIPTION | This test sequences the exons plus 5bp of the flanking introns of the SERPINE1 gene. Note, this sequencing assay does not cover the 4G/5G promoter polymorphism; this polymorphism has been associated with thrombotic risk but is also very common (25-50% of the normal population carry the risk allele). Sanger sequencing may be used to confirm variants as needed. |
LIMITATIONS | This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay. |
NORMAL RANGE | Interpretation: Negative |
ASSOCIATED TESTING | - |
REFERENCES | - |
SAMPLE REPORT | Upon request |
NEW YORK STATE APPROVED | No |
Test Codes
ORDER CODE | P3377 |
CPT CODE | 81479 |
LOINC CODE | 60577-4 |