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on
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
Description:
Explore the applications of Diagnostic Exome Sequencing (DES) in the Neonatal Intensive Care Unit (NICU) through this informative one-hour webinar. Gain insights into the clinical effectiveness of DES, institutional experiences, and gene sequencing methodologies. Examine patient populations, common indications for testing, and overall detection rates based on the first 500 cases. Delve into case examples, understand the unique challenges of the neonatal population, and learn about the benefits of early diagnosis. Discuss important considerations when choosing testing options, including emotional, physical, and psychosocial factors. Navigate through test options, NICU costs, and key takeaways to enhance your understanding of DES applications in neonatal care.

Ambry Genetics - Applications of Diagnostic Exome Sequencing

Ambry Genetics
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