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A test where the result provides a diagnosis for a condition caused by changes in the genome.

Use in clinical context

Diagnostic genomic tests are similar to other medical diagnostic tests in that they confirm or refute a diagnosis to provide a definitive answer. These types of tests are performed when an individual has signs or symptoms of a genomic condition.

There are different technologies that can be used to provide a genetic diagnosis for patients. Some tests may look for specific variants, for example, when there is a known variant causing a condition in a family, such as Lynch syndrome, familial hypercholesterolaemia or haemophilia. Other tests look for variants that commonly cause the particular condition. In other cases, it is necessary to look more broadly at the genome with a panel test, whole exome or whole genome sequencing.

Last updated on 19th November, 2021