EpiSign (Methylation Defects testing platform)

EpiSign is a commercial testing platform that analyzes genome-wide DNA methylation patterns to identify disease-specific "epigenetic signatures." It's like a fingerprint — each genetic condition produces a unique methylation pattern that can be detected in blood or tissue samples. Why it matters for MHS: EpiSign could become a diagnostic test for MEF2C deficiency, potentially catching cases that standard genetic testing misses. It's also useful for cases where genetic testing returns a VUS — the episignature can confirm whether that variant is causing disease.