Types of Genetic Testing for Epilepsy Diagnosis

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.