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

Test ID: F12NG    
F12 Gene, Next-Generation Sequencing, Varies

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

Genetic confirmation of hereditary angioedema (HAE) type III with the identification of an alteration in the F12 gene known or suspected to cause the condition

 

Testing for close family members of an individual with an HAE type III diagnosis

 

Genetic confirmation of factor XII deficiency with the identification of an alteration in the F12 known or suspected to cause the condition

 

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 F12 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XII deficiency or hereditary angioedema with normal C1 inhibitor (FXII-HAE).

 

The gene target for this test is:

Gene name (transcript): F12 (GRCh37 [hg19] NM_000505)

Chromosomal location: 5q35.3

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

Factor XII deficiency:

Special coagulation testing for factor XII (F_12 / Coagulation Factor XII Activity Assay, Plasma) should be performed prior to any genetic testing.

 

Genetic testing for factor XII deficiency may be considered if:

-Factor XII activity is reduced (less than 55% of normal)

-Acquired causes of factor XII have been excluded

 

Hereditary angioedema type III (FXII-HAE):

An international consortium has established a testing and diagnostic algorithm for the identification of hereditary angioedema (HAE) type III.(1)

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

F12 Gene, Full Gene NGS

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

Hageman Factor Deficiency
Factor 12 deficiency
F12 deficiency
HFXII-HAE
Type III HAE
HAE with normal C1INH