Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

This study attempts to harmonize reporting of PD genetic testing across several diagnostic labs and highlights current difficulties in interpreting genetic variants emerging from NGS-multigene panels, with relevant implications for counseling. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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关键词

Parkinson's disease, EOPD, nextgeneration, sequencing, gene panel, variant classification

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