Overview

Copy number variations (CNVs) are present in a wide range of cancer types and are clinically relevant as prognostic markers and as therapeutic targets. Current technologies, including digital PCR (ddPCR), fluorescence in situ hybridization (FISH), and traditional NGS, are limited in multiplexing capabilities, sensitivity, and/or compatibility with cell-free DNA (cfDNA), making it difficult to obtain clinically relevant data.

NuProbe’s Quantitative Amplicon Sequencing (QASeq) is a targeted-amplicon-based NGS method that enables accurate, highly multiplexed detection and quantitation, with detection of copy number variations (CNVs) down to 5% heterozygous single copy gain or loss, and mutations down to 0.1% variant allele frequency (VAF).

Do More With Less using QASeq

Low Input DNA

Results with as little as 5ng of DNA input

Ultrasensitive

Down to 5% heterozygous single copy change for CNVs (gene ploidy = 2.05/1.95) and 0.1% VAF for SNVs and indels

High Multiplexing

Up to 500 amplicons to achieve highly multiplexed PCR

Sample Flexibility

Compatible with cfDNA, FFPE tissue, and other biospecimens

Simultaneous Detection

CNV and mutation profiling from the same sample

Flexible Design Tools

Custom panel development completed in roughly 13 weeks

How QASeq Works

 

QASeq enables simultaneous ultrasensitive detection of CNVs and mutations with a low sample input. Through our proprietary primer design algorithms and bioinformatics, QASeq looks at more molecules across a broader target region, allowing for improved accurate quantification of target sequences.

QASeq Assays

Detection and Quantification of Breast-Cancer Associated CNVs

Publication Reference:

Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling. Nature Communications. (2022).

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