Thomas Jefferson University Study Finds Critical Weakness in Commercially Manufactured Exome-Capture Test Kits Used by Some Medical Laboratories

The four exome test kits examined as part of this study failed to deliver quality results, particularly because they often missed some disease-causing mutations altogether

Human exome sequencing is gaining favor among medical laboratories wanting to use this information for clinical purposes. However, the accuracy of some exome-capture test kits available on the market today has come under question.

A team from the Thomas Jefferson University in Philadelphia surveyed the potential false-negative rate of mutations in 56 disease-causing genes produced by four different commercially available human exome-capture test kits. The researchers found that these test kits failed to deliver quality results, sometimes missing mutations altogether, noted a report published by Medical Daily. (more…)

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