Molecular techniques used for predictive testing, ranked for different categories of sensitivity
Fraction of detectable DNA (sensitivity) | Type of analysis | |
Sanger sequencing | >10% | Qualitative analysis |
Pyrosequencing | 10% | Qualitative targeted analysis |
Optimised real-time quantitative PCR (ARMS PCR, CAST PCR, etc.) | 0.01–0.10% | Qualitative targeted analysis |
Digital PCR, BEAMing | <0.001% | Qualitative and quantitative targeted analysis |
Optimised NGS (SafeSeq, TAM-seq) | >0.1% | Qualitative and quantitative large-scale analysis |
Information from [43]. ARMS: amplification-refractory mutation system; CAST: competitive allele-specific TaqMan; BEAMing: beads, emulsion, amplification and magnetics; NGS: next-generation sequencing; TAM-seq: tagged-amplicon deep sequencing.