Our Tests

Hereditary Angioedema (I & II)

Also known as: Hereditary Angioedema Type I & II

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Purpose

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.

Clinical Utility

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.

Genes

SERPING1

Test Method

DNA sequencing of SERPING1 gene.

Test Ordering

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.

Special Instructions

Consider Hereditary Angioedema Type III (Factor XII Genetic test).

Price

$438

Medicare Rebate

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Turnaround Time

10 working days.