Tuesday, April 2, 2013

TRAPS Genetic testing - from Sam Breit (Includes Link for RCPA Genetic Testing Database)

Dear All
Thanks to Professor Sam Breit for his query on availability of testing for TNF R mutations in TRAPS.

 {" I have a patient who might have TRAPS.  Does anyone in Australia test for TNF receptor mutations, especially the low penetrance genotypes ?"}
This gives me the opportunity to highlight an excellent on-line resource detailing genetic tests performed in Australia, and the laboratories offering them.

Link for (searchable) RCPA Catalogue of Genetic Tests and Laboratories: http://genetictesting.rcpa.edu.au/

Link pointing to TNF R Mutation analysis: http://genetictesting.rcpa.edu.au/component/gene/lab/115/testname/589/Department_of_Molecular_Genetics_The_Children%5Es_Hospital_at_Westmead_NSW/TNFRSF1A