Publications
NPJ Parkinson's diseaseNov 2022 |
8
(
1
),
149
DOI:
10.1038/s41531-022-00408-6

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

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
Product Used
NGS
Abstract
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.
Product Used
NGS

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