EXOME ANALYSIS (WES)
The human exome comprises the protein-coding regions of our genes, which make up approximately 1 to 2% of the genome but contain around 85% of known disease-causing mutations. Exome sequencing (WES) is a molecular genetic procedure used to analyze these DNA regions to identify genetic diseases.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-generation sequencing
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
INDICATION
Exome sequencing is particularly indicated for patients with syndromic clinical pictures, developmental disorders, and heterogeneous, complex phenotypic features where a genetic cause is suspected.
Evaluation
Exome sequencing can be performed either as a single exome or as part of a trio exome, in which the DNA sequences of the child and their parents are compared. The evaluation of the results aims to clarify the cause(s) of existing symptoms.
The precise evaluation and interpretation of the results require a detailed phenotypic description of the affected individual, ideally using Human Phenotype Ontology (HPO) terms. These standardized terms enable an efficient and targeted selection of disease-associated genes and the assessment of the variants detected therein that may be causative for the patient’s clinical picture.
Identified variants are classified according to the guidelines of the “American College of Medical Genetics and Genomics (ACMG)” (PMID: 25741868), whereby generally only disease-relevant mutations are reported.
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.