Diagnostic yield of clinical exome testing in neurology patients of from tertiary care centre

Abstract

Since last few years genetic testing has become easily available. In developing countries where cost may forbid testing, evaluating clinical exome sequencing(CES) might be financially more feasible than whole exome sequencing (WES) for heterogenous mendelian disorders. However there are few studies to assess diagnostic yield of CES. Our study looked at diagnostic yield of clinical exome panel for phenotypic subgroup of neurological disorder with a presumed genetic aetiology.