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Molecular diagnosis for neurodevelopmental disorders-an overview of multi-gene panels and whole exome sequencing

Session:
#211
Date:
Tuesday, Apr 25, 2017 5:30pm – 7:00pm
Conference:
AAN 2017
Authors:
Amal Yussuf, Amanda Bergner, Brigette Tippin Davis, Erica Smith, Heather Newman, Jade Tinker, Jing Wang, Negar Ghahramani, Rhonda Lassiter, Sherry Dadgar, Shoji Ichikawa, Tiffiney Carter, Zöe Powis
  • MGP are useful to provide low cost, quick testing that avoids incidental findings.
  • Comprehensive array and MLPA tests included in MGP help to detected gross indels in targeted genes.
  • DES testing has the advantage of routinely identifying de novo alterations, novel genetic etiologies and classifying VUS by segregation information.
  • MGP that include parental testing for co-segregation analysis can help to improve the diagnostic yield and reduce
Abstract Poster