WAGR Syndrome Deletion

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

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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