Analysis of Commercial DNA Tests Finds Inconsistent Coverage

January 7, 2020

(Reuters) – Once strictly the domain of research labs, tests that sequence large swaths of the human genome called the exome have become increasingly popular among medical specialists as a way to understand the genetic causes of rare disease. But a sampling of a dozen tests from each of three commercial laboratories has found they often fail to adequately analyze large segments of DNA that could be contributing to disease, researchers report this week in the journal Clinical Chemistry.