Diagnosis of hereditary angioedema relies on dosage of both antigenic and functional levels of the C1 inhibitor plasma protein. Type I HAE is characterized by reduced antigenic and functional levels of C1 inh, while type II HAE features normal antigenic, but reduced functional levels. The ultimate demonstration of the hereditary transmission of disease requires genotyping of the C1 inh gene. To this point one has to consider that 25% of HAE patients present a "de novo" mutation of the C1 nh gene.
Not really! There are a few labs worldwide that can perform the test. Major labs are indicated in http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/3354
However other labs can also perform the test. In Italy Prof. Cicardi's lab at University of Milan and the Human Genetics lab at University of Foggia (Prof. Margaglione) can also do the job!
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