Neuroscience

Targeted panel testing superior for neuromuscular diseases

(HealthDay)—Targeted panel testing has the highest clinical yield for molecular diagnosis of neuromuscular diseases (NMDs), according to a study published in the February issue of the Annals of Neurology.

Genetics

Whole exome sequencing closer to becoming 'new family history'

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, ...

Genetics

Whole-exome sequencing shows potential as diagnostic tool

Among a group of 2,000 patients referred for evaluation of suspected genetic conditions, whole-exome sequencing provided a potential molecular diagnosis for 25 percent, including detection of a number of rare genetic events ...

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