PRNP Gene Sequencing

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Accredited by the Standards Council of Canada to Laboratory no. 594 - CAN-P-4E (ISO/IEC 17025)

Requisition Forms

Reference Details

Description:

Genomic Sequencing of the PRNP gene

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

Whole blood.  Minimum sample volume required is 15 mL.

Collection Method:

Collect whole blood in ACD (yellow) or EDTA (lavender) tubes.

Specimen Processing, Storage and Shipping:

A sample being shipped immediately (within 24 hours) after collection can be shipped at ambient temperature.  A sample being shipped more than 24 hours after collection should be stored and shipped at 4°C.  All samples should be shipped Mon-Wed to ensure receipt.

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.

For additional guidance on the transport of infectious substances in other languages, please click on the link below.

http://www.who.int/ihr/capacity-strengthening/infectious-substances/en/

Patient Criteria:

Inclusion of CJD, FFI, or GSS in the differential diagnosis of the patient, or a family history of the disease.

Accompanying Documentation:

Completed Prion Diseases Section PRNP Sequence Analysis requisition as found on https://cnphi.canada.ca, along with a signed "Consent for Genetic Testing" form as provided by the CJD Surveillance System (CJDSS) in Ottawa.  Please confirm the mailing address of the physician or genetic counsellor that is to receive the report by emailing phac.cjd.aspc@canada.ca.

Comments:

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.

Contact:
Phone: (204) 789-6078
Fax: (204) 789-5009
References:
Fact Sheets:
Guidelines:
Related Information: