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Test Catalog

Test ID: PRSNG    
Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

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

Ascertaining a pathogenic alteration in the PROS1 gene of patient with congenital protein S 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 PROS1 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of thrombophilia due to protein S deficiency.

 

The gene target for this test is:

Gene name (transcript): PROS1 (GRCh37 [hg19] NM_000313)

Chromosomal location: 3q11.1

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

At Mayo Clinic, measurement of plasma free protein S antigen (PSTF / Protein S Antigen, Plasma) is performed as the initial testing for protein S deficiency. If the free protein S antigen is abnormal, then the total plasma protein S antigen will be performed to distinguish between types I and III protein S deficiency. For patients in whom hereditary protein S deficiency is strongly suspected and the free plasma protein S antigen level is normal, consideration should be given to testing of free protein S activity, S_FX / Protein S Activity, Plasma, for detecting type II protein S deficiency.

 

Genetic testing for protein S deficiency is indicated if:

- Free protein S antigen and/or activity is abnormally reduced

- Preanalytical variables and acquired causes of protein S deficiency have been excluded (eg, acute thrombosis, surgery, disseminated intravascular coagulation [DIC], liver disease, vitamin K deficiency, therapy with vitamin K antagonists such as warfarin, pregnancy, treatment with hormonal contraceptives, HIV infection, varicella, sickle cell disease, malignancy, nephrotic syndrome)

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

PROS1 Gene, Full Gene NGS

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

Hereditary thrombophilia
Hereditary thrombophilia due to protein S deficiency
PROS1
Protein S deficiency
Protein S