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Test ID: PCNGS    
Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Ascertaining a pathogenic alteration in the PROC gene of patients with congenital protein C deficiency

 

This test is not intended for prenatal diagnosis

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger sequencing when appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

PROC Gene, Full Gene NGS

Aliases Lists additional common names for a test, as an aid in searching

Congenital protein C deficiency
Hereditary thrombophilia
Hereditary thrombophilia due to protein C deficiency
Protein C