Thirty-one families received genetic testing via WGS, 8 received targeted panel sequencing, and 5 received single-gene Sanger sequencing (this was for PAX6 screening in three patients with aniridia following a previous negative array comparative genomic hybridisation to rule out a deletion involving WT1 and PAX6 causing possible WAGR syndrome and two patients as part of research with OAT and CPAMD8 mutation). This evidence concerns the gene CPAMD8 and WAGR syndrome.