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.

• Speakers: Kelly Radtke
• Conference: ACMG 2019
• Date: Wednesday, Apr 03, 2019 1:15pm - 1:30pm