Whole Exome Genetic Testing

Scope

Whole-exome genetic testing is a comprehensive genetic test that identifies changes in a patient’s DNA that cause or are related to their medical problems. By focusing on the entire protein-coding region of the genome (the exome), whole-exome genetic testing gives you the coverage you need to diagnose your patients quickly and reliably. With more than 7,000 rare diseases identified, approximately 80% of which are associated with genetic causes, diagnosing patients with rare diseases is often difficult, resulting in a long, expensive and emotionally charged process. With WES, this doesn’t have to be the case. WES contains the majority (approximately 85%) of known pathogenic changes and can reveal the causes of rare diseases in less time and at lower overall cost, leading to better patient outcomes. With whole-exome genetic testing, we’re taking WES to the next level. The full exome genetic testing range covers more than 20,000 genes, and the detected mutations include: SNP and small indel. The application directions are:

Rare diseases in children
neurological diseases
various genetic diseases