Exon 4 of the PAI-1 (SERPINE1) gene is amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of the c.699_700dupTA frameshift mutation in the PAI-1 (SERPINE1) gene, in patients with clinical features consistent with Plasminogen Activator Inhibitor-1 (PAI-1) deficiency.
Interpretive report provided.
This assay will not detect large deletions in the PAI-1 (SERPINE1) gene or intronic mutations outside the region sequenced in the PAI-1 (SERPINE1) gene. This assay is designed specifically to detect a c.699_700dupTA frameshift mutation in the PAI-1 (SERPINE1) gene, and other mutations in this gene may not be detected. Mutations in other genes associated with the aforementioned syndrome will not be detected.
- PAI1 (SERPINE1) Mut Det Shadow
- PAI1 (Serpine1) Sequencing
- Plasminogen Activator Inhibitor 1 Mutation
- PAI-1 Inhibitor Mutation Detection
- Serpin E1 Mutation
- PLANH1 Mutation
- Endothelial Plasminogen Activator Inhibitor Mutation
- Plasminogen activator inhibitor-1 (PAI-1) deficiency
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
The c.699_700dupTA frameshift mutation results in the premature formation of a stop codon that causes the truncation of the PAI-1 protein and is associated with PAI-1 deficiency. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.