Hereditary Angioedema (III)
Also known as: Hereditary Angioedema Type III, Factor 12 Gene« Back to test list
Hereditary Angioedema type III is a rare form of familial angioedema that is usually caused by mutations in the F12 gene. A specific mutation results in over-production of a stimulator of inflammation. This disorder is inherited in an autosomal dominant fashion. This test has diagnostic implications.
In an affected person, an abnormal result is diagnostic of HAE type III. A normal result makes it unlikely that the patient has this disorder.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
Mutation analysis for the c.1032C>A mutation (p.Thr328Lys) in the F12 gene
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.
Consider Hereditary Angioedema (I&II) ( C1 Esterase Genetic Test).