Plasminogen activator inhibitor-1 (PAI-1) deficiency
PAI1 (SERPINE1) Mut Det Shadow
PAI1 (Serpine1) Sequencing
Plasminogen Activator Inhibitor 1 Mutation
PAI-1 Inhibitor Mutation Detection
Serpin E1 Mutation
Endothelial Plasminogen Activator Inhibitor Mutation
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….