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

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

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Intro

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1 of 12

Intro

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

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

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