Whole exome sequencing (WES) includes the sequencing of the protein coding regions and their flanking intronic regions in —20,000 genes of the human genome. The coding region represents 1-2% of the human genome but contains approximately 85% of disease-causing mutations.

Exome sequencing can be an efficient tool for clinicians to confirm patients' diagnosis of complicated conditions not covered by conventional testing approaches.

Indications for genetic testing

  • Confirmation of clinical diagnosis
  • Diagnosing of genetically and phenotypically heterogeneous group of disorders.
  • Testing patients with atypical phenotype
  • Diagnosis of patients with genetic disorders for which diagnostic panels are not available