Genetic Diagnostic Tests
Tests
Diagnostic genetic tests are performed when hereditary disease is suspected based on symptoms, family history, or other medical data. You can choose targeted genetic tests, gene panels, exome, and whole-genome sequencing services.
Targeted Test or Broad Sequencing?
If a specific disease is suspected and the related genes are known, a targeted test or a small gene panel may provide a more direct answer. When symptoms overlap with many genetic diseases or previous tests have not provided an answer, broader exome or genome sequencing may be considered.
Broader testing does not always mean a clearer answer. It can detect variants of uncertain clinical significance (VUS), for which there is currently insufficient data to determine whether they cause disease. A negative result also does not rule out all genetic causes, as the chosen method may not detect or interpret every possible change appropriately.
Before a diagnostic genetic test, it is especially useful to clearly define what you want to find out and provide a detailed family history. It is worth discussing the results of a broad test with a geneticist, especially if a pathogenic or uncertain significance variant is found.