Whole Exome Sequencing Wins Blue Ribbon

January 5, 2016
Whole Exome Sequencing Wins Blue Ribbon
A study found that whole exome sequencing holds promise for providing information and management options for patients and their families dealing with complex genetic conditions. [iStock/Adventtr]

GeneDx’ subsidiary BioReference Laboratories published results in Genetics in Medicine from a retrospective review of molecular diagnostic testing by whole exome sequencing (WES). According to GeneDx, it is the largest dataset of its kind published to date and demonstrates that WES is more successful in providing a definitive diagnosis for patients with rare and complex genetic conditions when parents or other affected family members are included in the analysis (trio approach). It also revealed new disease-causing genes.

GeneDx reviewed 3,040 consecutive WES cases over three years to better understand how WES could provide a genetic diagnosis for symptoms in an affected individual. The review showed WES to be a powerful clinical tool for diagnosing genetic conditions, especially in patients with severe or multisystemic conditions.

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