Breakfast at SSCY: Inborn Errors of Metabolism and “OMICS First” DNA Testing
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 Published On Apr 19, 2022

Presented by: Dr. Cheryl Greenberg MD, CM, FRCPC, FCCMG and
Angela Krutish MSc, MSc, CGC, CCGC

Learning Objectives:
- Define inborn errors of metabolism and list common signs and symptoms of these conditions
- Recognize different types of genetic testing (including single-gene tests, multi-gene panels, whole exome sequencing, and whole genome sequencing)
- Contrast the “OMICS First” approach with the traditional approach to diagnosing inborn errors of metabolism
- Consider the potential benefits and drawbacks of using an “OMICS First” DNA testing approach for the diagnostic work-up of a wide range of genetic conditions

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