TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: ATNGS    
Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

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

Ascertaining a causative alteration in SERPINC1 and the affected region of antithrombin (AT) protein in an individual clinically diagnosed with antithrombin deficiency

 

Genetic confirmation of a clinical AT deficiency diagnosis, particularly in patients with borderline low AT activity levels

 

Prognosis and risk assessment based on the genotype-phenotype correlations

 

Ascertaining alteration status of family members related to an individual with a confirmed SERPINC1 alteration for the purposes of informing clinical management and genetic counseling

 

Evaluating individuals with apparent heparin resistance

 

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 SERPINC1 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of antithrombin (AT) deficiency based on a reduced AT activity or antigen.

 

The gene target for this test is:

Gene name (transcript): SERPINC1 (GRCh37 [hg19] NM_000488)

Chromosomal location: 1q25.1

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

The clinical workup for antithrombin deficiency begins with an antithrombin (AT) activity assay (see ATTF / Antithrombin Activity, Plasma). An abnormal result is considered less than 80% of normal activity.

 

Genetic testing for AT deficiency is indicated if:

-AT activity assay is less than 80%

-There is a clinical suspicion for hereditary deficiency of antithrombin due to family history or atypical clinical presentation

 

If AT activity results are abnormal, an antithrombin antigen assay is usually performed to determine the quantity of antithrombin present (ATTI / Antithrombin Antigen, Plasma). This is done to distinguish between type I AT deficiency (characterized by reduced AT activity and antigen) and type II AT deficiency (low activity and normal antigen).

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

SERPINC1 Gene, Full Gene NGS

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

Antithrombin deficiency
Antithrombin III
AT deficiency
Hereditary antithrombin deficiency
SERPINC1
Thrombophilia
Venous thromboembolism