Invitae Hereditary Prion Disease Test
Use
The Invitae Hereditary Prion Disease Test analyzes the PRNP gene, associated with a spectrum of progressive neurodegenerative conditions like Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia. These conditions manifest with dementia, ataxia, and pyramidal and extrapyramidal features. The test aids in confirming diagnosis, providing anticipatory guidance, and identifying at-risk relatives.
Special Instructions
The test includes full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology, covering clinically important regions of the gene, including coding exons and adjacent intronic sequences. Limitations and specific details are available on the report.
Limitations
The assay achieves >99% sensitivity and specificity for single nucleotide variants, indels 15bp and for structural rearrangements like inversions or translocations. Some variants, such as those in non-coding regions, may not be covered. Single-exon copy number variations may not be detected due to sequence properties.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)