PRNP Test Protocol
What is the PRNP blood test?
Familial prion disease comprises approximately 10 -15% of all cases of prion disease. The prion protein gene (PRNP) is located on chromosome 20. PRNP testing analyses the gene for mutations associated with genetic prion disease. Polymorphisms in the gene are also identified and reported (eg Codon 129).
The Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR) requires a consent form to be signed for PRNP testing of symptomatic and deceased patients. Consent must be given by the most appropriate (legal) next of kin (NOK) due to the cognitive impairment accompanying prion diseases and illnesses that are likely to be amongst the differential diagnosis. Finding a PRNP mutation will have wider implications for first degree relatives, so the use of the ANCJDR consent form requires discussions over key issues for informed consent.
The consent form and a physician information sheet discussing these issues are available from the ANCJDR. The forms are intended to be used by clinicians and genetic services. PRNP testing will only proceed when the ANCJDR has received a copy of the signed NOK consent form.
The blood sample
- 4 mls in EDTA tube
- Stored 4 degrees
- DO NOT FREEZE
- Overnight courier service to arrive within 48 hours of blood being taken.
- PLEASE NOTIFY REGISTRY STAFF THE SAMPLE IS BEING SENT.
Please be aware results will ONLY be issued directly to the requesting clinician. Referring laboratories will not be issued with a copy of the result.
Please note samples can only be delivered between 9 - 4PM weekdays, addressed to:
The Australian National CJD Registry
Level 2 (Note new level)
The Medical Building
Department of Pathology
Faculty of Medicine
The University of Melbourne
Cnr Grattan St & Royal Pde
Phone: (03) 8344 1949 Fax: (03) 9349 5105
Diagnostic Testing Fees
Refer to Diagnostic pricing schedule