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Related Concept Videos

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Related Experiment Video

Updated: Dec 24, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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New generation genetic testing entering the clinic.

Sorina Gorcenco1, Andreea Ilinca1, Wejdan Almasoudi1

  • 1Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

Parkinsonism & Related Disorders
|April 11, 2020
PubMed
Summary

New generation sequencing (NGS) offers powerful genetic testing for diagnosing movement disorders. While diagnostic yields vary, NGS technologies like whole exome and genome sequencing are improving patient diagnoses and discovering new genetic causes.

Keywords:
AtaxiaDystoniaGeneticsMovement disordersNew generation sequencingParkinson disease

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Area of Science:

  • Neurogenetics
  • Genomic Medicine
  • Clinical Diagnostics

Background:

  • Next-generation sequencing (NGS) is a crucial tool for diagnosing rare and complex genetic diseases.
  • Its application is expanding in clinical settings, particularly for movement disorders with suspected heritable origins.

Purpose of the Study:

  • To review the utility of various NGS technologies (Targeted sequencing, Whole exome sequencing, Whole genome sequencing) in diagnosing movement disorders.
  • To discuss the diagnostic yield, challenges, and future directions of NGS in neurogenetics.

Main Methods:

  • Review of existing studies on NGS efficacy in diagnosing movement disorders.
  • Analysis of diagnostic yields for different NGS approaches (TS, WES, WGS) and specific movement disorder categories.
  • Discussion of factors influencing diagnostic yield, including patient selection and variant interpretation.

Main Results:

  • NGS demonstrates significant diagnostic yields for various movement disorders, including Parkinson's disease (up to 15.7%), dystonia (up to 37.5%), and ataxia/spastic paraplegia (up to 61.8%).
  • While WES and WGS increase diagnostic success compared to TS, a genetic cause remains unidentified for many patients.
  • Accurate variant interpretation and genotype-phenotype correlation are critical to avoid misdiagnoses.

Conclusions:

  • NGS technologies are revolutionizing the diagnosis of movement disorders, offering higher diagnostic yields and identifying novel genetic entities.
  • Continued advancements in genetic databases and understanding of genotype-phenotype correlations are essential.
  • Clear communication of genetic results and standardized reporting are necessary for effective clinical implementation.