TABLE 1

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
Pyrosequencing10%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.