Utilization of whole exome sequencing in the diagnosis of neuromuscular disorders
What is it about?
Whole exome sequencing (WES) aids in the detection of hereditary neuromuscular disorders. Nevertheless, it is crucial to conduct additional molecular investigations to establish links between identified genetic variations and clinical manifestations. Our study presents two aspects: (1) the clinical validation of WES-detected variants in patients and (2) a diagnostic strategy for individuals with negative WES results. In cases where WES fails to identify any relevant findings, it is important to explore secondary causes such as mitochondrial disorders and diseases caused by microsatellite expansions. Additionally, the examination of treatment response, segregation analysis, and further molecular assessments can greatly contribute to reaching a conclusive diagnosis.
Why is it important?
Whole-exome sequencing (WES) facilitates the diagnosis of hereditary neuromuscular disorders. To achieve an accurate diagnosis, physicians should interpret the genetic report carefully along with clinical information and examinations.