Leandros Boukas, MD, PhD May 13th, 2026 Introduction:   Many of us are familiar with the classic conceptualization of genetic disorders as disorders that run in families,…

This installment of the Gene Scene covers TGFBR1-related Loeys-Dietz Syndrome.

This installment of the Gene Scene explores PCSK9 variants.

Each week, we explore a gene from the ACMG Secondary Findings list—genes identified as having clear, actionable health implications. These genes are included because they’re…

Alyssa Valentine, MS, CGC, shares insights into a patient case where the incorporation of TCLR resulted in a major impact on MMR gene variant classification.

Targeted RNA analysis using whole blood can provide useful information for variant classification in neurological disorders. RNA evidence improves the accuracy of genetic diagnosis of…