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We’re looking forward to everyone joining us in sunny San Diego for ASHG 2018 with our new developments in the field of genetics…

Booth #421



PerkinElmer Exhibitor Education Event: Advancing Genomics Research with Innovative Workflow Solutions (3 -part series)


Title: Recognizing the Power of Next Generation Sequencing in Clinical Research

Presenter: Emily Farrow, Director of Lab Operations, Center for Pediatric Genomic Medicine, Children’s Mercy Hospital


Title: Advanced Detection of Breast Cancer of Breast Cancer Variants with Sophia Al

Presenter: Emily Paul, PhD,  Subject Matter Expert, Sophia Genetics


Title: Population Scale Genomics: Samples from the Real World

Presenter: Justin Lock, Head of R&D, Color Genomics


Day of Event: Thursday, October 18
Time of Event: 7:15 – 8:45AM (breakfast will be provided)
Location: San Diego Convention Center (SDCC), Room 30E, Upper Level


  • Combined mRNA and microRNA NGS library prep enables a more complete characterization of cell-free RNA
  • A reliable and robust DNA library preparation chemistry in an automated workflow for improved sequencing performance
  • An amplicon panel for BRCA sequencing bundled with a user-friendly bioinformatics solution
  • An amplicon panel for the detection of Noonan syndrome (NS)
  • A novel NGS solution for combined PGT-M and PGT-A: Analysis for β-thalassemia
  • Embryo sample tracking and identification during PGT using the mitochondrial genome
  • A novel single tube approach for combined PGT-A and PGT-M using Ion Torrent™ NGS


  • Implementation of copy number variant detection from existing exome and genome samples (Sciclone application)
  • Evaluation of methods for the extraction of microbial DNA from vaginal swabs used for microbiome (LabChip GX Touch application)