EP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges

Abstract

Inherited cystic kidney disease (CKD) is a heterogeneous group of conditions and is one of the most common causes of end stage kidney disease (ESKD). Identification of CKD can occur prenatally, in childhood, or in adulthood; it can be unilateral or bilateral in nature and can be non-syndromic or syndromic. Identifying the underlying molecular etiology of CKD can have implications for many aspects of clinical management, including refining the classification of the disease and enabling evaluation of previously unrecognized extra-renal features when a syndromic etiology is found.