PRNP Gene Sequencing<<Return to Laboratory
Accredited by the Standards Council of Canada to Laboratory no. 594 (ISO/IEC 17025)
Genomic Sequencing of the PRNP gene
- Fatal Familial Insomnia (FFI)
- Gerstmann-Straussler-Scheinker disease (GSS)
- Genetic Creutzfeldt-Jakob Disease (CJD)
Whole blood. Minimum specimen volume required is 15 mL.
DNA. Minimum concentration of 50ng/ul. Minimum volume of 20ul.
Collect whole blood in ACD or EDTA tubes.
Isolate DNA by standardized methods.
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.
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.
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).
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 email address or physical mailing address of the physician or genetic counsellor that is to receive the report by emailing firstname.lastname@example.org.
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 or email. The authorized physician/genetic counsellor will receive a full report by email (if requested) or by courier.
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.
25 calendar days.