Prion Sequence Analysis

Genetic prion diseases are characterized by cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs) as well as various other neurologic and psychiatric findings. Mutations in the human prion protein gene, PRNP, are associated with inherited prion diseases. Most mutations will be point mutations, while a minority will be insertions of one or more of a 24-base pair repeat motif. Allele specific mutation analysis is available for patients carrying a mutation and heterozygous for p.129 M/V genotype. Identification of a mutation as well as the disease-modifying amino acid variant at codon 129 allows for genotype:phenotype correlation.

Indications for Testing

  • Spongiform encephalopathy
  • Family history of spongiform encephalopathy
  • Creutzfeldt-Jakob disease
  • Fatal familial insomnia
  • Gerstmann-Straussler-Scheinker syndrome

Sample Requirements

Contact the National Prion Disease Pathology Surveillance Center online or at 216-368-0587 or 216-368-0819 for specifics on collecting and sending blood, CSF, tissue at autopsy, brain biopsy and/or urine.

Sample Handling

NOTE: All specimens should be shipped to the National Prion Disease Pathology Surveillance Center following their specific directions.

Turnaround Time

14 to 21 days, reported to the National Prion Disease Pathology Surveillance Center only

Please submit a completed National Prion Disease Pathology Surveillance Center Requisition for each sample, available on their website.

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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