Figure 1: PNA–ddPCR analyses in SWS patients.

Positive mutant–specific amplification was set to >1000 droplets with >7700 signal amplitude. (a) Detection limit of PNA–ddPCR. Mutant and wild–type clones were mixed serially in different ratios: 1, 0.5, 0.25, and 0.1% (mutant/mutant + wild–type). Ratios of 1–0.1% were positively amplified by PNA–ddPCR. (b) Mutation positivity was shown by PNA–ddPCR in 6 of 15 samples from SWS patients with <1% FA by ddPCR and in 1 of 25 samples from SWS patients for whom only blood samples were available in this study. Brn: Brain, Bld: Blood, Slv: saliva.