Rare mutation detection

Rare mutation detection (RMD) refers to detecting a sequence variant that is only present at a very low frequency in a pool of wild-type backgrounds (less than 1% or even 0.1%). Thus, for detecting and quantifying rare events, such as point mutations or single nucleotide polymorphisms (SNPs), a sensitive, accurate and precise method is necessary. The challenge is the discrimination between two highly similar sequences, of which one is significantly more abundant than the other.

Benefits of using nanoplate dPCR for detecting rare mutations

  • Ability to load a large input reaction volume into 26,000 partitions, which substantially increases the chances of finding a rare target 
  • Multiplexing for mutant and wild-type sequencing to detect low fractions of rare mutant molecules against an abundant wild-type background

A true needle in a haystack problem

Detection of low-frequency mutations in liquid biopsies is like finding a needle in a haystack. Digital PCR can detect and quantify these rare molecules and offer new opportunities for specific biomarker discovery, early tumor detection and monitoring treatment response. The QIAcuity digital PCR in nanoplates, with its walkaway workflow, superior partitioning and a unique hyperwell feature, extends the exquisite sensitivity and precision of a dPCR method to finding that one copy of the mutant even in the most challenging samples.

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Related publications

Herdt LR, et al. NSCLC digital PCR panel returns low-input sample results where sequencing fails. Diagnostics. 2024;14(3):243.

Andric F et al. Immune Microenvironment in Sporadic Early-Onset Versus Average-Onset Colorectal Cancer. Cancers. 2023;15(5):1457.

Hélias-Rodzewicz Z et al. Molecular and clinicopathologic characterization of pediatric histiocytosis. American Journal of Hematology. 2023;DOI:10.1002/ajh.26938.

Crucitta S et al. Comparison of digital PCR systems for the analysis of liquid biopsy samples of patients affected by lung and colorectal cancer. Clinica Chimica Acta. 2023;541:117239.

Further resources

Karalay O et al. Detection of rare events using the QIAcuity® Digital PCR System. QIAGEN, 2023.

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