Test Background

Deletions in the 11p13 region are associated with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. WAGR syndrome is caused by large deletions affecting the neighboring WT1 and PAX6 genes. Large deletions at 11p13-14 may be detectable by karyotyping or may be submicroscopic. Up to 30% of patients with the clinical features of WAGR syndrome will have a detectable deletion by MLPA testing. In addition, deletion or mutation of the PAX6 gene alone causes isolated aniridia. A significant proportion of isolated aniridia is caused by point mutations in PAX6; such mutations will not be detected by MLPA. This laboratory performs deletion/duplication by MLPA for this region.

Lab Method