Opinion|Videos|November 7, 2024

Types of Genetic Testing for Epilepsy Diagnosis

Author(s)John Michael Schreiber, MD

Key Takeaways

Whole genome sequencing (WGS) analyzes the entire genome, providing comprehensive insights into genetic variations and potential health implications.
Whole exome sequencing (WES) focuses on coding regions, identifying mutations in protein-coding genes that may cause disease.
Multigene panels target specific gene sets, offering efficient analysis for conditions linked to multiple genes.
Comparative genomic hybridization (CGH) and chromosome microarray (CMA) detect chromosomal abnormalities, aiding in the diagnosis of genetic disorders.

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John Michael Schreiber, MD, provides an overview of genetic testing, detailing the different types, including whole genome sequencing (WGS), whole exome sequencing (WES), multigene panels, comparative genomic hybridization (CGH), and chromosome microarray (CMA).

Episodes in this series

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

Please provide an overview of genetic testing.
1. What are the different types of genetic testing?
  1. Whole genome sequencing (WGS)
  2. Whole exome sequencing (WES)
  3. Multigene panel
  4. Comparative genomic hybridization (CGH)
  5. Chromosome microarray (CMA)

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