Exome Sequencing (CES and WES)

When is CES Used?

Clinical Exome Sequencing (CES) is a next-generation sequencing (NGS)-based test designed to detect mutations in the exome genes associated with a patient’s specific clinical presentation.

CES focuses only on genes related to the patient’s clinical symptoms. In other words, it targets genes known to cause specific diseases and analyzes them to identify the underlying genetic causes. Combining clinical data with genetic results improves diagnostic accuracy.

When is CES Used?

• Patients with a complex clinical presentation • Suspected new or previously undiagnosed genetic disorders • Patients with a family history of hereditary diseases • Patients with congenital anomalies, genetic disorders, or cancer cases in the family

Whole Exome Sequencing (WES)

Whole Exome Sequencing (WES) is a method that analyzes all coding exons of the genome using NGS. Although the exome constitutes only 1–2% of the genome, it contains about 85% of disease-causing mutations.

WES enables:
• Increased chances of identifying the cause of a disease
• Reduced need for multiple separate genetic tests
• Time and cost savings in genetic diagnostics

When is WES Used?

• Patients for whom clinical data alone is insufficient for an accurate diagnosis and treatment planning
• Detection of new, previously unreported genetic disorders
• Analysis of genomic regions associated with known anomalies

WES analyzes the entire exome, not just selected genes, allowing for more precise identification of disease causes and the development of a personalized treatment strategy.