NuProbe’s Quantitative Amplicon Sequencing (QASeq) technology allows rapid (4-8 week) development of custom NGS panels to detect mutations at 0.2% Variant Allele Frequency (VAF) and deletions at 1.97 ploidy or amplifications at 2.04 ploidy from FFPE tissue, fresh/frozen tissue or blood cfDNA.
Deletions and amplifications of genes, also known as copy number variations (CNVs), are present in a significant percentage of tumors, between 3% and 98% depending on the cancer type, and are clinically relevant as prognostic markers and as therapeutic targets.
Highly multiplexed amplicon molecular barcoding: QASeq utilizes unique molecular identifiers(UMI) and PCR to accurately quantify SNVs and Indels as well as to detect CNV.
High conversion yields and proprietary bioinformatics: QASeq technology has a high conversion yield (median >60%), allowing sensitive detection from small sample inputs (30ng FFPE DNA, 8ng fresh/frozen DNA, 10ng cfDNA). The fastq-to-variant report for related panels includes CNV and mutation calls with a user-friendly cloud or locally-run analysis program.
Simultaneous detection of mutations, deletions, and CNVs: QASeq technology allows the detection of mutations at 0.2% VAF and deletions at 1.97 ploidy (3% tumor cells with 1 copy deletion) or amplifications at 2.04 ploidy (4% tumor cells with 1 copy amplification) from FFPE tissue, fresh/frozen tissue or blood cfDNA.
Rapid development of custom NGS panels: QASeq technology allows rapid (4-8 week) development of custom NGS panels covering 1-20 genes.