Figure 2From: Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disordersHeterozygous macrodeletions detected by LSD-NGS. A) GLB1 exon 5 deletion; B) CLN3 exon 7 + 8 deletion. The area of the coverage peak for each deleted exon is half that seen in the corresponding control sample.Back to article page