Referral routes by country

United Kingdom

The 2026 multidisciplinary recommendations advise referring people with suspected prion disease to the National Prion Clinic, and offering genetic counselling before PRNP testing. For families already known to carry a variant, the same recommendations state that the National Prion Clinic can provide follow-on care for at-risk relatives in inherited prion disease, which makes it one of the few national services with an explicit remit beyond the affected patient.

Reporting and diagnostic support run in parallel through the Edinburgh service. The letter to neurologists and neuropathologists from the four UK Chief Medical Officers dated 29 August 2025 routes contact through service mailboxes rather than named clinicians, and its linked addresses include loth.securecjd@nhs.scot and loth.specialistncjd@nhs.scot for the Edinburgh service and uclh.prion.help@nhs.net for the National Prion Clinic, with duty room addresses for Northern Ireland and Wales. The letter’s own text was not machine-readable in the copy opened here, so which mailbox is intended for which purpose should be read from the letter itself rather than inferred.

For bereavement and family support the 2026 recommendations point to the GP, the palliative care team, hospital bereavement services and the CJD Support Network, with the national CJD services able to advise before and after a death.

United States

There is no single national clinic. The route runs through a genetic counsellor for predictive questions and through the National Prion Disease Pathology Surveillance Center for diagnostic and post-mortem work.

The CJD Foundation advises families to look for a counsellor trained in adult-onset conditions, specifically in the Huntington protocol, and points to the National Society of Genetic Counselors directory at findageneticcounselor.nsgc.org. It names the preparation a counsellor can offer: explaining the specific variant, the chance of having inherited it, the risk of developing the disease, rehearsing reactions to a positive or negative result, and planning what to tell family and friends. It also advises arranging life insurance or long-term care insurance before testing, and gives no detail on how testing affects eligibility. The Foundation’s helpline is 1-800-659-1991 and help@cjdfoundation.org, and it offers to speak with counsellors who want more information about CJD.

The surveillance centre at Case Western Reserve University coordinates brain-only autopsies for suspected prion disease and states the service is free for United States cases, on 216-368-0587. One point affects counsellors directly: results go only to the physicians named on the consent form, and the centre states it cannot release them to family members. Someone has to be named who will still be reachable about three months later.

Israel

The 2026 practice framework published by a consensus panel of 23 professionals from six centres, with 29 contributing in total, is the most explicit national pathway published for asymptomatic relatives.

Its structure: any relative of a person with genetic or apparently sporadic CJD who wants testing should have access to counselling, and the panel rejected proactively offering testing on the basis of ancestry, because of stigma and unnecessary distress. Counselling may be given by a medical geneticist, a genetic counsellor or a neurologist familiar with the disease. A structured mental health assessment by a psychiatrist or clinical psychologist, ideally one familiar with genetic CJD, is to be completed before testing, with written confirmation of readiness. The interval from counselling to blood sampling should be at least one month, and after acute bereavement the panel recommends considering a delay of at least six months. Results are delivered in person by the same clinician who gave the initial counselling.

Two numbers show why the framework was written. Tel Aviv Medical Center tested 2 to 3 asymptomatic people a year between 2014 and 2017, rising from 2018 to 29 in 2024. The authors estimate there are hundreds to thousands of asymptomatic E200K carriers in Israel.

The panel advised strongly against testing anyone under 18, and said testing young adults, for example 18 to 25, needs careful review of motivation, emotional resilience and impulsivity. It notes E200K disease rarely appears before age 40.

Reproductive routes are further developed than in most systems. Preimplantation genetic testing is widely available and publicly funded for up to two healthy offspring. Direct testing examines embryos for the known family variant; exclusion testing selects embryos that did not inherit the at-risk allele from the affected grandparent, without testing the at-risk parent, and is offered at tertiary centres to first- and second-degree relatives. Prenatal diagnosis is possible by chorionic villus sampling from about 11 to 12 weeks or amniocentesis from about 17 to 23 weeks. The panel recommends deciding these case by case.

The framework names its own main gap: no structured national post-test support programme exists, so support after a result comes mainly through health fund psychological services or research platforms. Its ninth recommendation asks health systems and policymakers to build one.

Australia

PRNP testing is performed by the Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, in Nedlands, Western Australia. The Australian National CJD Registry states that genetic testing is entirely voluntary and that a genetic service consultation is recommended rather than required. Samples are at least 5 mL of EDTA blood collected following Human Genetics Society of Australia guidelines, and the registry recommends, optionally, storing blood DNA from every suspected CJD patient in case family testing is wanted later. That last point is worth raising early, because it is far easier to arrange while the patient is alive.

CSF testing through the registry runs weekly on Mondays, using 14-3-3 ELISA and RT-QuIC. From 1 September 2026 the registry lists a fee of 250 dollars for domestic CSF samples and AUD 500 for international samples. No price or turnaround is listed for the genetic test.

Germany

Predictive testing is offered commercially as well as through clinical genetics. CeGaT in Tubingen runs a predictive dementia panel covering nine genes, APP, CSF1R, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1 and PSEN2. The laboratory describes genetic counselling with a specialist in human genetics, plus a consent declaration which may follow a reflection period, as absolute prerequisites. Counselling can be delivered by video as an alternative to attending in person, and a doctor already qualified in genetic counselling may advise the patient and order the test.

For care, the 2026 recommendations note that German access can depend on insurance processes, and that use of feeding through the stomach wall has declined to exceptional cases.