Hereditary Angioedema (I & II)
Also known as: Hereditary Angioedema Type I & II« Back to test list
Mutations in the SERPING1 gene cause hereditary angioedema (HAE) type I and type II. 85% of patients have low serum levels of C1 esterase (HAE type I); the remainder have normal C1 esterase levels but the protein is non-functional (HAE type II). The two types are clinically indistinguishable. This condition is inherited in an autosomal dominant pattern. This test has diagnostic implications.
In an affected patient, an abnormal result is diagnostic of HAE. A normal test result makes the 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. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
DNA sequencing of SERPING1 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 Type III (Factor XII Genetic test).