P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*

Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee, P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*, Genetics in Medicine Open, Volume 2, Supplement 1, 2024, 100880, ISSN 2949-7744, doi:10.1016/j.gimo.2024.100880. 

Since 2011, our laboratory has offered a protein-based clinical assay to quantify frataxin concentrations in blood that is useful for low-cost, rapid FA screening and diagnosis. Here, we summarize our laboratory experience.