|
Hereditary Angioedema (I & II)
|
|
General
|
| |
Clinical Use:
|
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. |
| |
Availability:
|
Samples are batched and tested monthly. |
| |
Aliases/Synonyms:
| SERPING1 Gene, |
| |
Code:
|
HAA |
| |
Handling Instructions (to laboratory):
|
Send sample ambient. |
| |
Hyperlink:
|
|
| |
Reference Interval:
|
Not Applicable
|
Collection Requirements
|
| |
Container:
|
EDTA (LAVENDER), |
| |
Sample Type:
|
See container |
| |
Minimum Collection Volume:
|
4mL |
| |
Collection Instructions:
|
Dedicated sample required.
Non-medicare rebateable item. All patients except Public, VA and Pensioners must pay $580 upfront. |
Processing Requirements
|
| |
Alternate Containers:
|
|
| |
Processing Instructions:
|
|
| |
Minimum Assay Volume:
|
|
| |
Stability:
|
|
| |
Transport Instructions (to testing laboratory):
|
Send sample ambient. |
Testing Locations
|
| |
Performed at:
|
|
Section
|
Department
|
Site
|
Contact Phone
|
| - |
Laboratory |
Sonic Genetics |
|
|
Last Updated : 05-03-2024 15:48 |