P520: Phenotypic presentation of pathogenic variants in the GLA gene disclosed through a population genomic screening program

Fabry disease is an X-linked disorder caused by pathogenic and likely pathogenic (P/LP) variants in GLA that lead to accumulation of globtiaosylceramide, resulting in a wide range of symptoms including acroparesthesia, hypohidrosis, chronic kidney disease, and left ventricular hypertrophy (LVH). Identification of GLA P/LP variants has historically relied on personal or family history warranting clinical genetics evaluation. Broader genomic testing, including population genomic screening, provides an opportunity for earlier identification of GLA P/LP variants, enhancing our understanding of the spectrum of Fabry disease and facilitating personalized treatment.