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High Resolution Mass Spectrometry and Glycosylatio ...
High Resolution Mass Spectrometry and Glycosylation Disorders – Changing Paradigms and Testing Strategies Presented by EGL Genetics
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Video Transcription
Video Summary
The video is a presentation on high-resolution mass spectrometry and glycosylation disorders. The speaker, Patricia Hall, is the director of the Biochemical Genetics Lab at EGL Genetics in Tucker, Georgia. She discusses the testing strategies for glycosylation disorders, including transparent analysis, glycan profiling, and enzyme analysis. She also emphasizes the limitations of these tests, including false normal or abnormal results and the lack of specificity in clinical findings. The speaker highlights the challenges in diagnosing glycosylation disorders due to their variable clinical presentations and the expanding number of identified genes. She provides case examples to illustrate the diagnostic process, including the use of molecular testing, and emphasizes the importance of accurate communication between clinicians and laboratories for interpretation of test results. The presentation concludes with a Q&A session where the speaker addresses questions related to the mass spectrometry profiles of glycosylation disorders and the limitations of biochemical testing. Overall, the presentation provides an overview of testing strategies and challenges in diagnosing glycosylation disorders.
Asset Subtitle
Patricia Hall, PhD, FACMG
Keywords
high-resolution mass spectrometry
glycosylation disorders
testing strategies
limitations of tests
clinical findings
diagnosing challenges
molecular testing
interpretation of results
biochemical testing
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