Exome & General Genetics

Session # 634

Proband-only Diagnostic Exome Sequencing: Trends in Diagnostic Yield at One Commercial Company

  • The diagnostic yield of proband-only diagnostic exome sequencing (DES) is nearly half that of DES performed on trios; however in the absence of available family members, proband-only DES is a useful diagnostic tool.
  • Pediatric cases submitted for proband-only DES had a higher overall diagnostic rate, but adult cases tended to have a higher level of certainty for clinical
  • Neonates had the highest diagnostic yield (80.0%; 4/5), and adults over the age of 40 had the lowest (5.48%; 4/73).

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