Genetics forms account for 10 - 15% of all CJD cases.

The appearance of symptoms at a young age and a known family history of CJD are hints toward a genetic prion disease. However, many mutations cause symptoms similar to those of sporadic CJD, making it difficult to identify a specific mutation.

The PRNP analysis and information on genetic TSE can be requested at the National Reference Center.

Please contact us via hotline for detailed information on how to process samples before sending in the specimens for genetic analysis.