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Exome Sequencing for Congenital Anomalies or Neurodevelopmental Disorders - Webinar - Ambry Genetics
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- 1 Intro
- 2 Phenotype Guides Test Choice
- 3 Type of Genetic Change Guides Test Choice
- 4 Who is Ordering the Test?
- 5 Balanced Rearrangements Causing Phenotype
- 6 Does Where You See the Patient Matter for Expected Yield of Exome Sequencing?
- 7 Gubbels et al.
- 8 Lower Yield Neonatal Phenotypes
- 9 Exome Clinical Utility for NDD
- 10 Consensus Statement: Exome First
- 11 Potential Barriers to Exome First
- 12 Exome Sequencing as a First Tier Test
