Prion Diseases Section

The Prion Diseases Section provides national reference services in support of health care professionals dealing with suspected cases of Creutzfeldt-Jakob Disease (CJD). Accredited testing to detect the presence of the pathogenic prion protein in CSF is performed by the end-point quaking-induced conversion (EP- QuIC) test. A neuropsychiatric disorder plus positive EP-QuIC in cerebrospinal fluid (CSF) or other tissues is sufficient criteria for a diagnosis of probable CJD.

The Prion Diseases Section supports further investigation of CJD cases by providing genetic sequence analysis of PRNP (the gene encoding the prion protein). Sequence analyses confirm or exclude the presence of mutations linked to inherited prion diseases. Due to the privacy considerations surrounding sequencing of patient DNA, consent must be obtained prior to this analysis being performed. Consent forms are available through the CJD Surveillance System by phone: 1-888-489-2999, fax: 613-952-6668 or email: cjdsurveillance@phac-aspc.gc.ca.

Requisition Forms and Guidance

The documents below support sample submission and testing requests. Please follow the numbered order (01–07) when selecting the appropriate forms and guidance materials, as the display order of attachments does not reflect the intended sequence:

01 – Initial EP-QuIC Test Requisition (LP for CSF)
02 – CSF Shipping Instructions
03 – EP-QuIC Guide to Interpretation
04 – Follow-up Genetic Analysis Requisition (Blood Draw)
05 – Blood Shipping Instructions
06 – Post-Mortem Prion Protein Analysis Requisition (Brain Tissue)
07 – Laboratory Handling of Low-Risk Specimens – Updated Recommendations