Clinical Exome sequencing

Description

Clinical exome sequencing (CES) is a genetic test that analyzes the protein-coding regions of a patient’s genome to identify disease-causing DNA variants. It’s used when a patient’s symptoms suggest a genetic disorder, but other genetic tests haven’t provided a diagnosis, or when the clinical picture is complex or atypical. CES can help pinpoint the genetic cause of a disease, guide treatment decisions, and inform reproductive planning.