Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders - Webinar - Ambry Genetics

Explore exome sequencing for congenital anomalies and neurodevelopmental disorders in this 55-minute webinar presented by Ambry Genetics. Learn about patient types in clinical genetics practice, genetic alterations causing rare syndromes and non-syndromic neurodevelopmental disorders, and compare various genetic testing methodologies. Discover workflows and challenges for implementing exome sequencing as a first-tier test. Gain insights from Dr. David Miller, Director of the Neurofibromatosis Program at Boston Children's Hospital and Assistant Professor at Harvard Medical School, who shares his expertise in clinical genetics and genetic testing. Moderated by Brooke Overstreet, a Genomic Science Liaison at Ambry Genetics, the webinar covers topics such as phenotype-guided test choices, balanced rearrangements, expected yields of exome sequencing, and potential barriers to implementing exome-first approaches in clinical practice.

Intro
Phenotype Guides Test Choice
Type of Genetic Change Guides Test Choice
Who is Ordering the Test?
Balanced Rearrangements Causing Phenotype
Does Where You See the Patient Matter for Expected Yield of Exome Sequencing?
Gubbels et al.
Lower Yield Neonatal Phenotypes
Exome Clinical Utility for NDD
Consensus Statement: Exome First
Potential Barriers to Exome First
Exome Sequencing as a First Tier Test