Creutzfeldt-Jakob Disease (CJD)
Consistent with O. Reg. 671/92 of the French Language Services Act, laboratory testing information on this page is only available in English because it is scientific or technical in nature and is for use only by qualified health care providers and not by members of the public.
Background
This page provides testing information for Creutzfeldt-Jakob Disease (CJD).
Test requests are received at the Public Health Ontario’s (PHO’s) laboratory and are referred out to the Prion Diseases section at the National Microbiology Lab (NML) in Winnipeg, MB.
Testing Indications
CJD is a fatal neurodegenerative disorder caused by the development of abnormal, infectious proteins called prions (PrP). It is a rare disease in Ontario. CJD can occur sporadically, due to inherited genetic mutations or through exposure to an incorrectly reprocessed medical instrument that had been used on an infectious patient. Variant CJD is related to consumption and/or exposure to infected beef or beef products.
Specimen Collection and Handling
In addition to the General Test Requisition (see Specimen Requirements below), you will also need to submit:
- For CSF Protein Panel: Prion Disease Section Requisition - CSF
- For PRNP Sequence Analysis: Prion Disease Section Requisition - PRNP Sequence Analysis
Specimen Requirements
| Test Requested | Required Requisition(s) | Specimen Type | Minimum Volume | Collection Kit |
CSF Protein Panel |
CSF |
1 mL (clear) |
Sterile tube/container |
|
PRNP Sequence Analysis5 |
Whole Blood |
15 mL |
Collected in ACD or EDTA tubes |
Submission and Collection Notes
Prior to submission, notify PHO’s laboratory of an incoming CJD specimen by contacting PHO’s laboratory Customer Service Centre at 416-235-6556 or 1-877-604-4567.
Each specimen type submitted for testing must be accompanied by a separate PHO laboratory General Test Requisition (e.g. serum, CSF). Ensure that the appropriate CJD testing is requested as outlined above. In addition, the Prion Disease Section Requisition - CSF for CSF, or Prion Disease Section Requisition - PRNP Sequence Analysis for blood MUST be completed. All sections of each requisition form must be completed.
Label the specimen container(s) with the patient’s first and last name, date of collection, and one other unique identifier such as the patient’s date of birth or Health Card Number. For additional information see: Criteria for Acceptance of Patient Specimens. Failure to provide this information may result in rejection or testing delay.
CJD specimens are sent to the Prion Diseases Section at The National Microbiology laboratory for testing. Refer to Prion Diseases Section - Guide to Services - CNPHI (canada.ca)
A fully completed “Consent for Genetic Testing” form is MANDATORY for PRNP Sequence analysis. Contact the Canadian Creutzfeldt-Jakob Surveillance System (CJDSS) by Tel: 1-888-489-2999 or by email cjdsurveillance@phac-aspc.gc.ca to obtain the consent form.
Submit the completed consent form directly to CJDSS by Fax: 613-952-6668 or by email to NML (Prion Diseases Section) cjd@phac-aspc.gc.ca. Specimen will not be tested until consent form is received either at CJDSS or NML.
Limitations
- CSF specimens with visible blood, hemolysis or xanthochromia may impact validity of test results and will not be processed without consultation with the NML’s Section Chief.
- CSF specimens collected post-mortem will impact the validity of test results and as such are not processed.
Storage and Transport
Do not treat CSF with formaldehyde or formic acid. Polypropylene tubes are strongly preferred for CSF collection, storage and shipment. Specimens should not be shipped in glass vials due to the risk of breakage.
CSF specimens should be frozen immediately at -20 to -80°C for optimum integrity. CSF specimens stored at 4°C prior to freezing and shipping are acceptable for testing. Avoid freezing and thawing of specimens to ensure integrity. Please note storage conditions on the requisition.
Store blood specimens in refrigerator until they are being shipped for testing. Avoid freezing whole blood samples.
Specimens should be shipped out as Category B, UN 3373, CSF specimens on dry ice and whole blood specimens on ice packs. Contact PHO’s laboratory Customer Service Centre to request information/assistance in shipping these types of specimens.
Transport of CSF specimens:
- A certified UN3373 outer container must be used to ship diagnostic specimens for CJD.
- Inner containers must consist of primary and secondary leak-proof containers with enough absorbent material between the primary and secondary container to absorb the entire contents in the case of damage to the package.
- Clearly Label the outer package with “CJD” for laboratory processing, decontamination and disposal.
- Ship as Category B, UN 3373.
- Ship frozen on dry ice
Transport of whole blood specimens:
- Whole blood should be shipped in the original vacutainer and not transferred to other types of tubes or vials.
- The package should be tightly packed to prevent the specimen tubes from shifting or breaking during shipping. There must be sufficient absorbent material in each primary container to absorb the entire volume of the specimen in case of breakage.
- Clearly label the outer package with “CJD” for laboratory processing, decontamination and disposal.
- Ship as Category B, UN 3373.
- Ship on ice packs.
Note: Failure to ship appropriately packaged specimens may result in cancellation or testing delay.
Follow institutional and provincial guidelines as well as Transportation of Dangerous Goods Regulations (TDGR), including their Shipping Infectious Substance Bulletin for specimen collection, transportation and storage.
Special Instructions
Additional CSF specimens (collected in separate tubes) are required when CJD is requested along with other tests.
Other PHO’s laboratory tests will not be performed until CJD results are received from NML.
Test Frequency and Turnaround Time (TAT)
Turnaround times for different CJD tests at NML from receipt of specimens (at NML):
- CSF Protein Panel is 15 calendar days.
- PRNP Sequence Analysis is 25 calendar days.
Algorithm
Refer to Prion Diseases Section - Guide to Services - CNPHI (canada.ca)
Interpretation
Refer to Prion Diseases Section - Guide to Services - CNPHI (canada.ca)
Reporting
Results are reported to the ordering physician, authorized health care provider (General O. Reg 45/22, s.18) or submitter as indicated on the requisition.
Positive CJD CSF protein panel results are reported to the Medical Officer of Health as per Health Protection and Promotion Act and the Toronto Public Health Communicable Diseases Reporting List.
Note: To maintain confidentiality, PRNP analysis reports are sent directly to the submitter. PHO’s laboratory will not receive this report.
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