When a Disease-Causing Mutation Is Not a Pathogenic Variant
Clinical Chemistry Podcast · Association for Diagnostics and Laboratory Medicine
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Show Notes
The clinical utility of molecular genetic testing relies on an accurate and comprehensive knowledge about the relationships between genes and variants, and diseases. Correctly interpreting the clinical significance of variants that may be detected continues to be a constant challenge for molecular diagnostic practice. This challenge has become substantially enlarged as next generation sequencing-based testing becomes rapidly integrated into routine clinical practice.