Exome & General Genetics

Session # Abstract Presenation# 650

Three-quarters of Upgraded Negative Reports Due to Reclassification are Due to Lab-initiated Proactive Reanalysis

  • Of patients sequenced at our laboratory, 2.9% with initially negative diagnostic exome sequencing reports received up-graded, non-negative reports due to reclassification
  • 79% of these upgraded reclassification reports were due to newly characterized gene-disease relationships, therefore providing diagnoses to our patient’s with the most up-to-date clinical data.
  • 74% of these upgraded reclassification reports were laboratory-initiated demonstrating the power of proactive science to help patients.

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