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. 2024 Apr 30;36(2):195–214. doi: 10.21147/j.issn.1000-9604.2024.02.07

Table 1. Techniques used to identify ctDNA and their advantages and limitations.

Techniques used to identify ctDNA Description Sensitivity Advantages Limitations Ref.
ctDNA, circulating tumor DNA; WGS, whole genome sequencing; WES, whole-exome sequencing; PCR, polymerase chain reaction; ddPCR, droplet digital PCR; NGS, next-generation sequencing; CAPP-Seq, cancer personalized profiling by deep sequencing; TS, target-panel sequencing; SNV, single nucleotide variation.
WGS Target whole genome Moderate to low Detects innovative mutations, has multiplex capabilities and high throughput diagnosis Costly and requires bioinformatics analysis support (22,23)
WES Target whole genome Moderate to low Detects innovative mutations, has multiplex capabilities and high throughput diagnosis Costly and requires bioinformatics analysis support (22,23)
Digital PCR Known and specific regions Relatively high Cheaper comparatively Low throughput and does not detect innovative targets (22,23)
ddPCR Known and specific regions High Rapid and sensitive Low throughput and does not detect innovative targets (22,23)
Allele-specific PCR Amplify rare mutant DNA sequences Lower Easy to use, budget friendly detect only small number of genomic sequences in sample (23)
NGS-amplicon Deep sequencing of entire genome High (some methods) Less expensive than other NGS methods Less extensive, cannot detect rearrangements without customizing assay (23)
CAPP-Seq Target only hybrid capture High Detects rearrangements and highly sensitive for SNV Less extensive than WGS or WES (23)
iDES enhanced CAPP-Seq Target hybrid capture and integrated error suppression High Has flexibility and coverage, highly reliable to detect all aberrations in a single assay Less extensive than WGS or WES (23)
TS Panel-size targeting Relatively high Detects innovative mutations, has multiplex capabilities and high throughput diagnosis Costly and requires bioinformatics analysis support (22,23)