Rare Hereditary Diseases: WES & WGS

Whole-exome and whole-genome sequencing for rare hereditary disease

In neurogenetics and paediatric neurology, investigation of a genetic condition may begin with evaluation of the patient’s phenotype and clinical history. A specialist can recommend the most appropriate analysis.

WES and WGS

Whole-exome sequencing (WES) analyses the exons of genes. Whole-genome sequencing (WGS) analyses the genome, including coding and non-coding regions. These are performed using next-generation sequencing (NGS) and may identify variants relevant to the clinical question.

Depending on the findings, the referring clinician may recommend a suitable genetic analysis and follow-up. Results require clinical interpretation and genetic counselling.

Neurogenetics

Rare hereditary neurological conditions can have a wide range of presentations. Testing is selected according to the individual and family history and should be discussed with the referring specialist.