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A test that looks at the protein-coding regions of the genome that have a known clinical association with disease.

Use in clinical context

Genomic sequencing can lead to a diagnosis for individuals with undiagnosed conditions, but often it is unclear where in the genome to start looking. This calls for larger whole genome, whole exome or clinical exome sequencing. An advantage of sequencing the clinical exome is that these parts of the genome already have a clinical association with disease established. If a variant is found in these regions, it can be easier to establish causality and potentially identify a treatment than if a variant is found elsewhere. The clinical exome contains approximately 5,000 disease-causing genes.

Last updated on 30th June, 2020