Australia has a single national registry for these diseases, which means the testing route is clearer here than in many countries. Your doctor arranges it; families do not send samples themselves.
Who can help the family
The CJD Support Group Network offers support, information and assistance to families and friends of someone with suspected CJD or another prion disease, and to people at increased risk. Its national toll-free helpline is 1800 052 466.
It provides information packages, fact sheets and guidance covering diagnosis, what to expect, palliative care, grief, funerals and autopsies. It also publishes infection control information written separately for families, hospital staff, health professionals and funeral directors, which is useful if anyone is applying precautions in a way that keeps you away from your relative.
The network supports people at increased risk because of past treatment with human pituitary hormones, and it runs clinical workshops and an education programme with a handbook for health professionals.
It is Australia’s member organisation in the CJD International Support Alliance.
Spinal fluid testing
The Australian National CJD Registry at the Florey in Melbourne runs the diagnostic tests on cerebrospinal fluid: the 14-3-3 protein test and RT-QuIC. Testing runs weekly, on Mondays, so the day a sample is taken affects when a result comes back. The registry asks to be notified when a sample is sent.
From 1 September 2026 the registry lists a fee of 250 dollars for samples from within Australia and AUD 500 for samples from other countries.
Genetic testing
PRNP genetic testing is done by the Neurogenetics Unit in the Department of Diagnostic Genomics at PathWest Laboratory Medicine WA, in Nedlands, Western Australia. It looks for changes linked to CJD, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia.
The registry states that genetic testing is entirely voluntary, and that a consultation with a genetic service is recommended. No price or turnaround time is published for this test.
One point is worth raising early with the treating team. The registry recommends, as an option, storing blood DNA from every patient with suspected CJD, in case the family wants testing later. That is much easier to arrange while the person is alive than afterwards.
Counselling comes before any decision about testing yourself, and deciding not to test is a valid choice. Counselling first explains how that works.
Research and trials
What is open changes, and eligibility is set by the people running each study. Trials outside the United States covers how to ask.
Related pages: support groups by country, labs by country, Canada, United States and the countries hub.