Sunday, January 6, 2013

Factor XII Mutation testing in HAE III - From Karl Baumgart


Thanks Glenn, we do this in Sydney

Our SCI lab has been renamed Sonic Genetics but folks can email me (KBaumgart@dhm.com.au) above for information.

We do a real-time PCR for the described Factor XII mutation

We also can sequence if needed; we did this for all initial requests but only one mutation has been described so the RTPCR should now suffice.

We have detected two mutations in about 80 referred patients..

Sincerely

Karl Baumgart