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PRNP Gene Sequencing

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Accredited by the Standards Council of Canada to Laboratory no. 594 (ISO/IEC 17025)

Requisition Forms

Reference Details


Genomic Sequencing of the PRNP gene

Test Category:
Creutzfeldt-Jakob Disease (CJD)
Illnesses and Diseases:
  • Fatal Familial Insomnia (FFI)
  • Gerstmann-Straussler-Scheinker disease (GSS)
  • Genetic Creutzfeldt-Jakob Disease (CJD)

Whole blood or DNA.

  1. Minimum blood specimen volume required is 15 mL.
  2. Minimum DNA concentration of 50ng/ul, and minimum volume of 20ul


Collection Method:
  1. Collect whole blood in ACD or EDTA tubes.
  2. Isolate DNA by standardized methods.
Specimen Processing, Storage and Shipping:

A blood specimen being shipped immediately (within 24 hours) after collection can be shipped at ambient temperature.  A blood specimen being shipped more than 24 hours after collection should be stored and shipped at 4°C.  DNA should be shipped frozen at -20°C to prevent desiccation.  DNA specimens may be shipped frozen at -80°C in the same packaging as its associated CSF specimen.  All specimens should be shipped Mon-Wed to ensure receipt by Friday. Specimens are not received on the weekend.

Transportation of Dangerous Goods:

Shipping of specimens shall be done by a TDG certified individual in accordance with TDG regulations. For additional information regarding classification of specimens for the purposes of shipping, consult either Part 2 Appendix 3 of the TDG Regulations or section 3.6.2 of the IATA Dangerous Goods Regulations as applicable.

Patient Criteria:

Inclusion of CJD, FFI, or GSS in the differential diagnosis of the patient, or a family history of the disease (please include relevant family information).

Accompanying Documentation:

Completed Prion Diseases Section PRNP Sequence Analysis requisition as found on, along with a signed "Consent for Genetic Testing" form as provided by the CJD Surveillance System (CJDSS) in Ottawa.


Sequencing of the PRNP gene cannot begin prior to the receipt of a signed consent form. The submitting laboratory will receive notification of release of the report by Fax.  The authorized physician/genetic counsellor will receive a full report by courier.

Methods and Interpretation of Results:

DNA sequencing of the human PRNP gene is performed to identify possible mutations that are known to be causative for prion diseases, as well as common polymorphisms that are observed in the PRNP gene. 

Turnaround Time:

25 calendar days.

Phone #: (204) 789-6078
Fax: (204) 789-5009
Fact Sheets:
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