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A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

In NPJ Parkinson's disease

Parkinson's disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.

Kovanda Anja, Rački Valentino, Bergant Gaber, Georgiev Dejan, Flisar Dušan, Papić Eliša, Brankovic Marija, Jankovic Milena, Svetel Marina, Teran Nataša, Maver Aleš, Kostic Vladimir S, Novakovic Ivana, Pirtošek Zvezdan, Rakuša Martin, Vuletić Vladimira, Peterlin Borut

2022-Nov-04