The Gene Scene explores KCNQ1-related long QT Syndrome (LQTS), including autosomal dominant LQTS1, autosomal-recessive LQTS1 (AR-LQTS), and Jervell and Lange-Nielsen syndrome (JLNS)

In this Gene Scene, Margo Gallegos, MS, CGC, discusses FOLR1, its link to cerebral folate transport deficiency, and new FDA statements about treating patients with…

The Gene Scene covers the GLA gene and its association with Fabry disease.

In this week’s Gene Scene, Grant Bonesteele, MS, CGC, spotlights COL3A1and its association with Ehlers-Danlos Syndrome and Multiple Congenital Anomalies Syndrome.

The Gene Scene covers PALB2 and its association with prostate, breast, ovarian and other cancers and genetic predisposition to other conditions.

The Gene Scene covers LDLR and its effect on hypercholesterolemia