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Diagnostic Exome Sequencing (DES)
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Classroom Contents
Ambry Genetics - Applications of Diagnostic Exome Sequencing
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- 1 Intro
- 2 Objectives
- 3 Diagnostic Exome Sequencing (DES)
- 4 What is the Exome?
- 5 Clinical-effectiveness of Diagnostic Exome Sequencing
- 6 Institutional Experience
- 7 Institutional Offerings
- 8 Genes of Exome Sequencing
- 9 Exome Report Categories
- 10 Methods
- 11 Results: Patient Population
- 12 Results: Indications for testing
- 13 Results: Common Indications for Testing
- 14 Results: Overall Detection Rates (First 500 cases)
- 15 Results: Neonatal Detection Rates
- 16 Selected Diagnoses Syndrome
- 17 Data Analysis Conclusions
- 18 Case Example #1
- 19 Family History
- 20 Case Example #2
- 21 The Neonatal Intensive Care Unit (NICU)
- 22 What is the "neonatal population"?
- 23 Undiagnosed Pediatric Population
- 24 ACMG Policy Statement
- 25 Benefits of Exome Sequencing and Early Diagnosis
- 26 Benefits of Early Diagnosis
- 27 Considerations When Choosing Testing
- 28 Emotional and Physical Considerations
- 29 Psychosocial Considerations
- 30 NICU Cost
- 31 Navigating Test Options
- 32 "Take Home" points
- 33 Acknowledgements
- 34 THANK YOU
