Clinical Testing

Diagnostic Activities of the Center

The NPDPSC offers a variety of Diagnostic Services for patients suspected of having a prion disease. These include:

  • In Cerebrospinal Fluid (CSF): Prion marker testing through our prion panel (14-3-3, Tau, and RT-QuIC) testing. The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded. We measure Total Tau in CSF, which is markedly elevated with prion disease. RT-QuIC (real-time quaking-induced conversion) is a high specificity test that used to detect the abnormal prion protein.
  • In DNA extracted from blood, brain, or other tissues: Search for the presence of mutation in the prion protein gene and determine the polymorphism at codon 129 and at other codons.
  • In frozen brain tissue obtained either at biopsy or autopsy: Search for the presence and establish the type of the abnormal, protease-resistant form of the prion protein, also known as scrapie prion protein (PrPSc) through Western Blot analyses.
  • On fixed brain tissue obtained either at biopsy or autopsy: Exclude or confirm and characterize the prion disease by microscopic examination following ordinary histological procedures and immunohistochemical analyses (H&E/IHC) demonstration of the prion protein, as well as pattern of tissue distribution.

Resources for Healthcare Professionals

The links below contain additional links and resources for professionals.