View Only-High Resolution Mass Spectrometry and Glycosylation Disorders-High Resolution Mass Spectrometry and Glycosylation Disorders – Changing Paradigms and Testing Strategies Presented by EGL Genetics

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