Improving the diagnostic yield of exome sequencing

For pediatric patient with neurological symptoms of unknown etiology, the diagnostic yield of exome sequencing may depend on a number of clinical characteristics, researchers say.

“Exome sequencing has become an important component in the evaluation of many pediatric patients with undiagnosed neurologic disease”, according to Dr Cameron Crockett of Washington University and the Children’s Hospital in Saint Louis, Missouri, USA.

Identifying which patients are most likely to benefit from exome sequencing as part of the diagnostic workup would help improve efficiency and limit unnecessary testing.

Dr Crockett and colleagues assessed the diagnostic utility of exome sequencing by retrospectively analyzing data from patients who underwent the testing as part of the Undiagnosed Mendelian Disorders Study at the Washington University Exome Clinic between 2015 and 2020.

Their main findings were as follows:

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