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Genetic Testing of Movements Disorders: A Review of Clinical Utility.


ABSTRACT: Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice.

Highlights

The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.

SUBMITTER: Yeow D 

PROVIDER: S-EPMC10785957 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Yeow Dennis D   Rudaks Laura I LI   Siow Sue-Faye SF   Davis Ryan L RL   Kumar Kishore R KR  

Tremor and other hyperkinetic movements (New York, N.Y.) 20240108


Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limita  ...[more]

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