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

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

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

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)

• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)
• Rare Coagulation Disorder Patient Information

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing When Appropriate