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But when O’Donnell looked at high-resolution images of chromatograms said to show SPMs, the figures didn’t look like “real data,” she says.

That process makes it easier to identify chemicals, and the mass spectrometer then spits out the different measurements in a computer chart with peaks and valleys called a chromatogram.

The chromatograms exemplify the sequence detected in all of the other samples analysed.

So, for this analysis, G:A peak height ratios were approximated directly from the sequence chromatograms using Softgenetics Mutation Surveyor software for the British Screening Panel and the Danish Test Panel.

The deletion/substitution area is indicated with a grey box in the chromatograms.