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. Author manuscript; available in PMC: 2016 Apr 1.
Published in final edited form as: J Pediatr. 2015 Feb 11;166(4):1048–54.e1-5. doi: 10.1016/j.jpeds.2014.12.069

Figure 2.

Figure 2

Scatterplots depicting ddPCR results specifically for the p.E542K mutation assay. The X-axis indicates fluorescence intensity in droplets for the probe targeting the wild-type amplimer and the Y-axis indicates fluorescence intensity in droplets for the probe targeting the p. E542K mutant amplimer. Individual droplets that contain no amplimer are pseudocolored black, wild-type amplimer red, p.E542K mutant amplimer green, and wild-type and p.E542K mutant amplimers yellow. (A) Scatterplot when water-alone was used as template. Neither wild-type nor mutant amplimer was present in any of the 15,633 droplets in this experiment. (B) Plot when affected tissue DNA from participant LM2, who has a different PIK3CA mutation (p.C420R), was used as template for the p.E542K assay. Of the 13,932 droplets analyzed, 11,670 contain no amplimer and 2,262 contain amplimer that is wild-type at the p.E542K locus. (C) Scatterplot when affected tissue DNA from participant LM1, who was previously found to have a p.E542K mutation by whole exome sequencing, was used as template. Of 13,146 droplets analyzed, 3,811 contain wild-type amplimer, 242 contain mutant amplimer, 193 contain wild-type and mutant amplimer, and 8,900 contain no amplimer.