Table 1.
Method | Type of alteration | Analytical merits* | |
---|---|---|---|
PCR | Nested real-time | Known point mutations | Sensitivity 0.1–1% |
ARMS/Scorpion | Sensitivity 0.1% | ||
Mutant-allele specific68 | Sensitivity 0.01% | ||
Bi-PAP/Bi-PAP-A | Sensitivity 0.01–0.1% | ||
PNA-LNA PCR69 | Sensitivity 0.1% | ||
Digital PCR | BEAMing | Known point mutations, genomic rearrangements | Sensitivity 0.001%–0.01% |
ddPCR |
All techniques detect limited genomic loci and must consider ctDNA fragmentation for primer design.
Abbreviations: PCR, polymerase chain reaction; ARMS, amplification refractory mutation system; Bi-PAP, bidirectional pyrophosphorolysis-activated polymerization; Bi-PAP-A, allele-specific amplification bidirectional; PNA-LNA, peptide nucleic acid–locked nucleic acid; BEAMing, beads, emulsion, amplification, magnetics; ddPCR, droplet digital PCR.