A genetic counselor's perspective: Using SNP microarrays to direct personalized sequencing panels
Mary Beth Seprish
Wednesday, January 20, 2016
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Chapters
Introduction
Genetic Testing at Children’s National
ASHG Poster #2521F
History of Genetic Testing at CNHS
NGS Process Flow
Breakdown of Microarray Reports
Tools for Investigating Genes in AOH
Case Example #1
Case Example #1 pt.2
Diagram 1
Total Genes in AOH
AR Genes in AOH
Clinically Relevant Genes in AOH
Recommended Testing
Benefits
Case Example 2
Case Example 2 diagram
Diagram 2
All Genes in AOH
AR genes in AOH
Surprise!
Diagram 3
Common AR Genes
Result Summary
Homozygous COLQ mutation
Benefits
Case Example #3
Diagram 4
Total Genes in AOH
AR Genes in AOH
Homozygous CANT1 mutation
Benefits
Follow-up testing based on AOH/hmz findings reported on microarray
Examples of NGS Results from Microarray
Benefits
Thank You
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