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Ultra-Sensitive Mutation Detection Technology to Enable Early Detection of Disease Recurrence

By LabMedica International staff writers
Posted on 06 Aug 2025

Rarity Bioscience (Uppsala, Sweden) has developed superRCA (super Rolling Circle Amplification), an ultra-sensitive molecular amplification technology for detecting rare nucleic acid sequences in liquid biopsy or tissue samples. More...

Designed to detect very small amounts of DNA sequence variants, such as cancer mutations, in tissue or liquid biopsy samples, it offers remarkable sensitivity for identifying cancer mutations and monitoring disease progression. This innovative platform converts nucleic acid sequences into fluorescent particles, enabling molecular analysis via standard flow cytometry—a widely available instrument in hematology and pathology labs. By leveraging existing infrastructure, superRCA allows seamless adoption of advanced molecular diagnostics without additional capital investment.

SuperRCA achieves exceptional sensitivity, detecting one mutation among 100,000 wild-type DNA molecules. This is accomplished through two consecutive Rolling Circle Amplification (RCA) reactions, significantly enhancing specificity and precision. 10–100 times more sensitive than gold-standard methods like digital PCR (dPCR) and Next-Generation Sequencing (NGS), superRCA is ideally suited for liquid biopsy and cancer monitoring, where detecting ultra-low levels of disease is critical. A library covering 300+ mutations has been applied across multiple cancers, including hematologic and solid tumors. One of superRCA’s most impactful applications is in Minimal/Measurable Residual Disease (MRD) detection. By identifying residual cancer DNA in peripheral blood with unmatched sensitivity, it enables earlier relapse detection, leading to better patient outcomes. Frequent monitoring with superRCA empowers clinicians to detect and address relapses at the earliest stages, facilitating timely, potentially life-saving interventions.

When using especially liquid biopsies to study solid tumor cancers, the ability to analyze several mutations from the same sample is crucial since the analysis depends on the fragmented cell-free DNA recovered from plasma or other liquid biopsies, often scarce and precious resources. The superRCA technology allows for multiplexing in several different ways based on applications and user needs, which means that one can analyze several mutations from the same DNA sample with excellent sensitivity. By combining unparalleled sensitivity, cost-effectiveness, and compatibility with existing workflows, superRCA is transforming molecular diagnostics and making ultra-sensitive cancer monitoring more accessible than ever. Rarity Bioscience was the winner of the 2025 ADLM Disruptive Technology Award and audience choice award for its superRCA ultrasensitive molecular amplification technology.

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Rarity Bioscience


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