Abstract
Molecular testing has expanded exponentially in recent years with subsequent variants of uncertain significance (VUS) creating even more challenges for clinical practice. Clinicians oftentimes are restricted in their ability to perform functional testing as it is not routinely available clinically. Additionally, research groups may not be studying that particular gene at the time of results return. Epigenetic disorders may be particularly well-suited for further, non-invasive functional studies, which are now clinically available.
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