PRNP Gene Sequencing

Sequencing of PRNP gene that encodes for the prion protein.

Whole blood. Minimum sample volume required is 20 mL.

N/A

Ship whole blood in ACD or EDTA tubes within 24 hours of draw. Ship samples at ambient temperature.

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.

Inclusion of CJD in the differential diagnosis of the patient.

Completed Prion Laboratory Section requisition. Signed "Consent for Genetic Testing" form as provided by the CJD Surveillance Office in Ottawa. Please include patient name, or unique identifier as assigned by the National CJD Surveillance Office in Ottawa.

Samples are submitted with consultation from the National CJD Surveillance Office in Ottawa.

DNA sequencing of the human PRNP gene is performed to identify: (1) possible mutations that are known to be causative for prion diseases and (2) possible polymorphisms that are associated with prion diseases. The results are reported to Canada's National CJD Surveillance System.

25 calendar days.