A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots

A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots. Devin Oglesbee, Karen Sanders, Charles Kroll, Ramanath Majumdar, Amber McDonald, Grazia Isaya, Dimitar Gavrilov, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo, Fred Lorey, Dietrich Matern. 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations Phoenix Convention Center North Building.

Keywords: Friedreich ataxia, newborn screening pilot study, multiplex immunoassay, FXN levels, dried blood spots (DBS)