Testing specifications
CSF testing
The ANCJDR provides routine diagnostic testing services to aid the assessment of suspected sporadic, familial, and iatrogenic cases of CJD and other prion diseases nationwide, and as required to New Zealand and South-East Asian countries. These tests include the NATA/RCPA accredited CJD Biomarker Panel 14-3-3 protein ELISA and RT-QuIC assay (Real-time quaking induced conversion).
Domestic samples incur no fee, international samples incur a fee of $AUD 500.00.
Specimen requirements
Notify the ANCJDR when sending a CSF specimen. The Specimen Data Sheet (PDF, 336KB) must accompany specimens sent for testing. For the most accurate comprehensive screening for Creutzfeldt-Jakob disease to be carried out on a single CSF sample, we recommend the following:
- Clear, non-haemolysed CSF
- A minimum of 2.5ml is requested
- No further sample processing – DO NOT SPIN
- Store and send specimens, refrigerated at 2-8oC within 2 days, otherwise freeze
- Store and send specimens frozen and on dry ice
- Provide routine microbiology and biochemistry results (red and white blood cell counts and protein concentration)
- Specimens should be double bagged and accompanied by the original request slip and the completed Specimen Data Sheet (PDF, 336KB)
| Micro Biochem | Room temperature | 4o Celsius | Frozen | Sample tube | CJD screen sensitivity and specificity | |
| 14-3-3 ELISA | RBC < 2500/ul and non-haemolysed | < 2 days | < 4 days | Indefinite, not affected by freeze/thaw | N/A | 81.3%
84.4% |
| RT-QuIC | RBC < 1250/ul
WBC < 10/ul |
< 2 days | < 4 days | Indefinite, not affected by freeze/thaw | N/A | 92% > 99% |
| Alzheimer’s screen | N/A | < 5 days | < 14 days | No | Low binding (cat# 63.614.625) | N/A |
Samples that do not meet the above collection criteria can proceed with testing but may be reported with caveats. Note: CSF collected and/or stored in other tube types, as well as refrigerated or frozen CSF are still suitable for 14-3-3 and RT-QUIC testing. Read the CSF Collection Protocol for Referring Clinicians and Laboratories Guidelines (PDF, 236KB) for more information.
Tissue biopsy
Please contact the ANCJDR before collecting any tissue biopsies for instructions and requirements. Please complete a tissue request form (PDF, 650KB) for any of the following tests:
- Biopsy testing – for evidence of prion disease (PrPSc) – this includes tonsil biopsies and brain biopsies.
- Codon 129 analysis – extracted from tissue or blood samples determines the disease modifying polymorphism at codon 129 in the prion protein gene (PRNP).
- PrPSc testing and prion strain typing in brain tissue – confirms a diagnosis of prion disease and provides clarification of the sporadic CJD sub-type, the most complete picture of prion diseases present in Australia.
Domestic tissue samples sent for testing do not incur a fee. International tissue samples sent for diagnosis will be subject to the below fees.
| Testing type | Price in $AUD |
| DNA extraction (from fresh/frozen brain tissue) | $200.00 |
| c129 genotyping | $100.00 |
| Diagnostic PrPsc detection | $400.00 |
| Prion strain typing (including PrPsc glycotyping and c129 genotyping) | $500.00 |
| DNA extraction and prion strain typing | $600.00 |
| Variant CJD testing from tissue biopsy | $600.00 |
Genetic testing
PRNP gene test
An estimated 10-15% of prion diseases occur due to an inherited genetic mutation. These mutations in a gene called the prion protein gene (PRNP) can lead to CJD, Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI).
The PRNP gene test analyses DNA from an individual for the presence of mutations associated with genetic prion diseases. DNA can be extracted from peripheral blood or unfixed (brain) autopsy tissue. It is recommended to store extracted DNA from a blood sample for every suspected CJD patient to secure the option of future genetic testing for the patient’s family. This allows the patient’s family the option to consider PRNP gene testing of their relative at a later stage. Taking a blood sample for long-term storage of DNA is optional.
Genetic testing is entirely voluntary. PRNP gene testing is frequently requested when a family history of prion disease raises concerns for the genetic basis of the illness. Testing for genetic prion disease often raises significant medical, ethical, psychological, and legal issues for living blood relatives. Consultation with a genetic service is recommended.
Sample requirements:
At least 5 mls EDTA blood marked ‘for DNA extraction and storage for future testing for a patient with suspected CJD or other prion disease’ or ‘PRNP testing’. Please follow the Human Genetics Society of Australia’s guidelines on PRNP genetic testing.
Storage and testing location
Neurogenetics Unit, Department of Diagnostic Genomics
PathWest Laboratory Medicine WA
Level 2, PP Building
QEII Medical Centre
Hospital Avenue
Nedlands WA 6009
P +61 8 6383 4219
F +61 8 9346 4029
E [email protected]
