Our PCR and NGS-based test designed to detect pathogenic GAA repeat expansions and sequence variants within the FXN gene was successful in providing 18 positive test results to individuals known to have, or suspected of having, Friedreich Ataxia. The FA Identified sponsored testing program has presented a unique opportunity to understand the milieu of clinical characteristics of individuals with a positive FA diagnosis, and the health care providers seeking such testing for their patients.
Monday, March 17, 2025
P732: Identification of pathogenic expansions within FXN in individuals with suspected Friedreich ataxia diagnoses
P732: Identification of pathogenic expansions within FXN in individuals with suspected Friedreich ataxia diagnoses, Bohm, Kaitlynne et al., Genetics in Medicine Open, Volume 3, 103101 doi:10.1016/j.gimo.2025.103101
