Laboratory Tests for Creutzfeldt-Jakob Disease (CJD)

Western blotting

Laboratory diagnosis of CJD is dependent on demonstration of the presence of the protease resistant form of the prion protein, PrP^CJD (also referred to as PrP^Sc, PrP^DIS, PrP^TSE, and PrP^res). Screening for the presence of PrP^CJD may be done by enzyme immunoassay (EIA) testing, but confirmation requires the more specific tests of Western blotting (WB) or immunohistochemistry (IHC). Please contact the laboratory for more information about these tests. An example of a WB is shown here.

 

Prion gene polymorphism

A methionine/valine polymorphism at codon 129 of the PRNP gene is associated with the clinical course of CJD. This genotyping can be done by PCR amplification of the PRNP gene and subsequent digestion with the restriction enzyme Nsp1 (PCR-RFLP). Please contact the laboratory if further information is required about this test. An example of a PCR-RFLP genotyping test is shown here.

To find out more about CJD, visit the sites of MRC Prion Unit (London) or the National CJD Surveillance Centre (Edinburgh).

 

Last reviewed: 16 December 2009