A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
Anja KovandaValentino RačkiGaber BergantDejan GeorgievDušan FlisarEliša PapićMarija BrankovicMilena JankovicMarina SvetelNataša TeranAles MaverVladimir S KosticIvana NovakovicZvezdan PirtošekMartin RakušaVladimira VuletićBorut PeterlinPublished in: NPJ Parkinson's disease (2022)
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.