Technical Notes

Sizing FXN GAA Repeat Expansions with EGM

Nabsys Applications Background

Friedreich’s ataxia and other repeat expansion disorders remain difficult to assess because of long, unstable intronic repeats that are challenging to size using PCR and sequencing-based approaches.

This technical note shows how we used Nabsys electronic genome mapping (EGM) with the OhmX™ Platform, together with the RepX™ Repeat Expansion Analysis (RepX) pipeline, to detect and quantitatively size FXN GAA repeat expansions using native, amplification-free DNA.

Explore data from Coriell samples, see concordance with gel-based sizing for expanded alleles, and examine how molecule-level measurements provide insight into repeat length variability.

If you’re studying Friedreich’s ataxia or other repeat expansion disorders, download this resource for a practical approach to bring greater clarity and confidence to repeat expansion analysis.

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Sizing FXN GAA Repeat Expansions with EGM
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Research Areas & Applications

Cancer Research
Gain deeper insights and drive breakthroughs in cancer research with the OhmX™ Platform,  powered by electronic genome mapping (EGM) and expertly engineered to unravel the complexities of structural variants (SVs) in cancer genomes.
Orthogonal Validation of NGS and LRS
Gain confidence in your genomic discoveries from NGS and long-read sequencing (LRS) platforms with a low-cost solution to verify, clarify, and identify structural variant (SV) calls.
Rare Disease
Unravel complexities and gain critical insights with the OhmX™ Platform, designed to help you push the boundaries of rare disease research.
Cell and Gene Therapy
EGM provides clarity to genomic integrity where other tools can’t.

Ask an expert how you can get the  most with the OhmX platform.

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