Use of test
Mutations in the SERPING1 and F12 genes cause hereditary angioedema (HAE). There are three types of hereditary angioedema, called types I, II, and III. Type I is the most common with low serum levels of C1 esterase, accounting for 85% of cases. Type II occurs in 15% of cases with normal C1 esterase levels but the protein in non-functional. Types I and II are clinically indistinguishable and caused by mutations in the SERPING1 gene. Type III is rare and caused by mutations in the F12 gene.
This condition is inherited in an autosomal dominant pattern.
In an affected patient, an abnormal result is diagnostic of HAE. A normal test result makes the clinical diagnosis unlikely but does not exclude it..
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. Use of the Sonic Genetics consent form (below) is not mandated, but could be used to guide the discussion with the patient.
In the case of carrier testing of an unaffected child, national regulations require that the laboratory has evidence of pre-test counselling by a genetics professional and written consent.
Download the Sonic Genetics consent form.
DNA sequencing of the SERPING1 and F12 genes.
Requesting the test
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 collection centre (see link below).
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.
Click here for our billing policy.