Whole-Exome Sequencing (WES) from Sistema-BioTech is a modern, high-precision method of genetic analysis that allows for the sequencing of the coding portion of the genome (the exome) and the identification of variants (mutations) responsible for most hereditary diseases.
What is whole-exome sequencing? The exome is the part of the genome that encodes proteins, i.e., the “functional” parts of genes. It accounts for approximately 1–2% of the entire genome but contains about 85% of known pathogenic genetic variants (mutations) that cause diseases. Exome sequencing involves reading all protein-coding regions with high accuracy to find changes that may explain a disease. Whole-exome sequencing provides significantly more information than targeted gene panels, while remaining more affordable and accurate than whole-genome sequencing (WGS).
Who is this test recommended for? • Patients with rare or unspecified genetic diseases. • Families experiencing unexplained infertility, recurrent pregnancy loss, or IVF failures. • Children with congenital anomalies, developmental delays, or neurological disorders. • For oncological diseases (to identify hereditary forms). • When comprehensive diagnostics are required prior to pregnancy planning.
Test results: You will receive a report describing the identified pathogenic variants (mutations), their clinical significance, and recommendations.