Session # 1393

Up-front vs. post-reporting parental co-segregation analysis: Is one approach superior?

  • Post-reporting analysis resulted in a VUS reduction rate of 39%, nearly double the rate of VUS reduction from up-front analysis (19%), likely due to additional available resources subsequent to the original report, such as newly published literature and database info; however, this results in an extended TAT of 8-12 weeks.
  • Up-front analysis provides comprehensive results in a single report within the clinical reporting TAT (3-10 weeks, depending on test panel); however, variant assessment is limited to the resources available at the time, including absence of the second parent’s sample (approx. 40% of cases).
  • Providing multiple options for obtaining parental co-seg analysis increases provider and patient access to this service and allows for the highest yield of informative results

  • Speakers: Elaine Weltmer
  • Conference: NSGC 2017
  • Date: Saturday, Sep 16, 2017 12:30pm - 12:45pm

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