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PRNP Genetic testing

We are very pleased to announce that the guidelines for PRNP genetic testing- produced in 2016 by a working group chaired by Professor Martin Delatycki- are now published by Human Genetics Society of Australasia.

These guidelines have been developed by a committee consisting of representatives of clinical genetic services, genetic testing laboratories, the CJD Support Group Network (CJDSGN) and the Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR). Feedback and information from the New Zealand CJD Register, Human Genetics Society of Australasia and Genetic Services is incorporated.

The following guidelines are recommended procedures, not regulations. They are recommendations concerning the use of genetic testing for the detection of mutations in the prion protein gene (PRNP).

These recommendations are to be used to protect and assist at-risk individuals and should be therefore freely available to patient families to ensure that they are able to make independent informed decisions. These guidelines are also intended to assist clinicians, clinical geneticists, genetic counsellors, testing laboratories, health departments, ethics committees and lay organisations in caring for patients and their families.