Repeat Expansion Disorder Research Using Electronic Genome Mapping on the OhmX Platform

Current workflows for repeat expansion research test one locus at a time, with each target sized separately and results assembled across multiple assays and reports. Scaling across the ataxias, ALS/FTD, epilepsies, and neurodevelopmental and neuromuscular disorders is slow, and variation within an expanded allele is difficult to characterize when molecules are measured in bulk.

Electronic genome mapping (EGM) on the OhmX™ Platform sizes repeat expansions across up to 23 loci in a single amplification-free run, with allele-specific repeat lengths called by the RepX Analysis Pipeline on Nabsys Navigator™. The examples shown include FMR1, DMPK, and FXN cell lines, with RepX sizing alongside reported values and gel sizing, and the full list of supported loci.

Explore how EGM on the OhmX™ Platform can help you size and characterize repeat expansions across multiple loci in one workflow.