Exome & General Genetics

Exome Reanalysis Results in an 8% Reclassification Rate

•    Overall, 8% of clients ordering a re-analysis received a reclassified report.
•    New test results or new family history details resulted in a significantly higher likelihood of a reclassification. 
•    These data highlight the utility of DES in providing a comprehensive and timely molecular diagnosis with the ability to continually assimilate new information. 
•    The ability to continually reanalyze exome data adds to the economic value of the test compared to traditional testing methods. 
•    The data emphasize the importance of counseling patients about the likelihood of a result reclassification in the future.
 

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