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Medicine

Pathology

Test Reporting

Test Reporting

Reporting tests performed at the NPDPSC

Our Internal Review Board requires that all results be reported to the caregivers or physicians sending the samples.  Patient families should obtain these reports from the caregivers and should inform the NPDPSC if they need assistance in obtaining them.

Fixed Brain Tissue: A report will be issued stating whether the tissue is positive or negative for prion disease based on immunostaining of the prion protein, and a tentative diagnosis regarding the type of prion disease will be added when possible.  Turn-around time is approximately 14 business days from receipt of the samples for autopsies and approximately three days for biopsies.

Frozen Brain Tissue: A report will be issued stating whether the tissue is positive or negative for prion disease based on Western blot analysis of the tissue, and a tentative diagnosis regarding the type of prion disease will be added when possible.  Turn-around time is approximately 14 business days from receipt of the samples for autopsies and approximately three days for biopsies.

PrP Gene Sequencing in Blood and Other Tissues: A report will be issued stating whether a mutation was discovered in the gene which encodes the prion protein. The presence of a mutation indicates a diagnosis of CJD, FFI, or GSS as noted in the report.  Please note that, in cases where only blood is available, we cannot rule out the possibility of sCJD or iCJD as a potential diagnosis. Turn-around time is approximately one month from receipt of the samples. Please note that these results cannot be released without a signed Testing and Reporting form.

Cases from which more than one test could be performed:, i.e.:

  • IHC test on fixed tissue and PrP gene sequencing on blood;
  • WB and PrP gene sequencing;
  • IHC, WB, and PrP gene sequencing

Separate reports will be issued for the IHC and WB.  For the positive cases, a third report will be issued where the precise type of prion disease (sporadic, familial, and their respective subtypes) will be indicated. Total turn-around time for cases requiring IHC, WB, and PrP gene sequencing is approximately 1 ½ to 2 months.