Pathogenic FMR1 Repeat Expansions Confirmed with EGM Data Analyzed Using the Nabsys RepX Pipeline

Fragile X syndrome and other rare neurological diseases are notoriously difficult to assess due to long, unstable repeat expansions that evade standard sequencing techniques. This technical note showcases how Nabsys Electronic Genome Mapping (EGM), combined with the RepX pipeline, overcomes these challenges—accurately sizing CGG and GAA repeat expansions in the FMR1 and FXN genes.

Explore comparative data using well-characterized Coriell samples, learn how our platform avoids pitfalls like allele dropout and single-stranded DNA folding, and see how single-run analysis can streamline repeat expansion profiling.

If you're working on fragile X, Friedreich’s ataxia, or other repeat expansion disorders, this is a must-read for bringing precision and scale to your genomic research or diagnostic pipeline.