Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Ascertaining a pathogenic alteration in the PROC gene of patients with congenital protein C deficiency
This test is not intended for prenatal diagnosis
This test detects pathogenic alterations in the PROC gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of protein C deficiency.
The gene target for this test is:
Gene name (transcript): PROC (GRCh37 [hg19] NM_000312)
Chromosomal location: 2q14.3
The clinical workup for protein C deficiency includes special coagulation testing for protein C activity (CFX / Protein C Activity, Plasma).
Genetic testing for protein C deficiency is indicated if:
-Protein C activity is reduced (<75% of normal)
-Acquired causes of protein C deficiency have been excluded (eg, vitamin K deficiency, oral anticoagulation with coumarin compounds, liver disease, intravascular coagulation and fibrinolysis/disseminated intravascular coagulation: ICF/DIC)
If protein C activity is low, protein C antigen testing (PCAG / Protein C Antigen, Plasma) helps to distinguish between type I and type II deficiencies.
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger sequencing when appropriate