(3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of genetic prion disease has not been considered may be more likely to be diagnosed using genomic testing (see Option 2).Ī multigene panel that includes PRNP and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing and multigene panel) and comprehensive genomic testing ( exome sequencing or genome sequencing). (2) Identification of a heterozygous PRNP variant of uncertain significance does not establish or rule out the diagnosis of the disorder. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and " likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. The diagnosis of genetic prion disease is established in a proband with suggestive findings and a heterozygous PRNP pathogenic (or likely pathogenic) variant identified by molecular genetic testing (see Table 1).
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