Supplemental Figure S3.

Detection of insertions/deletions in C9orf72 alleles by size determination using the PCR product profiles. Unusual size of amplicons indicates insertion or deletion between the binding sites of the forward and reverse primers for the Penn-C9 and AmplideX-C9 assays. The vertical pink bars indicate off-scale peaks. RP-PCR, repeat-primed PCR. G₄C₂ repeat sizes are indicated in each electropherogram. exp, expansion; exp^del, expansion with deletion.