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. 2018 Nov;20(6):871–882. doi: 10.1016/j.jmoldx.2018.07.001

Figure 4.

Figure 4

Analytic sensitivity of the AmplideX-C9 assay. A: A C9orf72 expansion sample was tested on AmplideX-C9 using decreasing DNA input, starting with the recommended 40 ng. The results demonstrate a sensitive and robust saw-tooth amplification pattern down to 1.25 ng with the peak for 140 repeats still detectable, as well as the pile-up peak at 1020 bp. B: A sample heterozygous for a C9orf72 expansion and a normal allele of 13 repeats (100%) were admixed with a sample homozygous for two repeats (0%) at ratios of 3:1 expanded to normal (75%), 1:1 (50%), and 1:3 (25%) and amplified with AmplideX-C9. The zoomed-in electropherograms are shown, highlighting the locations of the 2- and 13-repeat normal alleles. In the 25% mixture, the amplitude of the expanded allele peaks is approximately 40% of the neat sample peak amplitude. C: Full range view of the 25% mixture electropherogram from B showing the ability to still count up to 140 repeats in this sample. RFU, relative fluorescence units.