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How do gene panels work?

Published in Genetic Testing 2 mins read

Gene panels work by simultaneously sequencing a collection of genes grouped together for testing, enabling comprehensive analysis for specific diseases, syndromes, or phenotypes. These panels range in size from just a few genes to over a thousand.

Understanding Gene Panels

Gene panels are designed to target specific areas of the genome known to be associated with particular conditions. This targeted approach is more efficient and cost-effective than sequencing the entire genome.

Key Aspects of Gene Panel Function:

  • Targeted Sequencing: Gene panels focus on sequencing only the genes included in the panel, saving time and resources compared to whole-genome sequencing.
  • Simultaneous Analysis: They allow for the simultaneous sequencing of all the genes in the panel, providing a comprehensive overview of potential genetic causes related to a specific condition.
  • Disease-Specific Grouping: Genes are grouped together because they are known to be associated with a particular disease, syndrome, or phenotype.
  • Variable Size: The number of genes included in a panel can vary significantly, ranging from as few as two genes to over 1,000, depending on the complexity of the condition being investigated.

Example of Gene Panel Application

Imagine a patient showing symptoms indicative of a hereditary cancer syndrome. A gene panel designed to analyze genes associated with increased cancer risk (e.g., BRCA1, BRCA2, TP53, PTEN) could be used. By sequencing all these genes simultaneously, clinicians can efficiently identify any mutations that might explain the patient's increased risk of developing cancer.

Benefits of Using Gene Panels

  • Efficiency: They offer a faster and more focused approach compared to sequencing the entire genome.
  • Cost-Effectiveness: Analyzing a selected set of genes is more affordable than whole-genome sequencing.
  • Clinical Relevance: Panels are designed to target genes with known clinical significance, making the results more directly applicable to patient care.
  • Comprehensive Analysis: They provide a complete picture of the genes known to be associated with a specific condition.

In essence, gene panels offer a targeted and efficient method for identifying genetic variations associated with specific diseases or conditions by simultaneously sequencing a curated collection of genes.