Focus on the clinically relevant 2%. Exons make up 2% of the total DNA, but harbor ~85% of the known disease-causing mutations
ExomeScan: an unbiased approach to detect even a single disease-causing mutation in up to 20,000 genes.
What is Whole Exome Sequencing?
Whole Exome Sequencing (WES) surveys the protein coding regions (the exome) with the objective to provide a diagnosis for previously undetermined clinical images. In contrast to conventional genetic testing which interrogate only one or a limited number of genes per patient, ExomeScan analyses all coding genes. It is an efficient method to find the underlying genetic defects for all common and rare genetic diseases.
Clinical ExomeScan summarized:
- Sequencing of ~20.000 genes / 180.000 exons
- Clinical ExomeScan is an ISO 17025 accredited service
- Comparison of observed genetic variants with databases of known benign and pathogenic variants
- Cross-analysis of first degree family members to detect the type of inheritance.
- Comprehensive report of the findings
When choose ExomeScan?
- The patient is suspected to have a disease for which no standard diagnostic test is available or in cases the available test does not yield a conclusive answer.
- If the clinical features are atypical or multi-interpretable: the differential diagnosis does not rule out multiple disorders.
- When performing one or multiple (genetic) tests is time-consuming and/or expensive.
- When the anamnesis does not point into the direction of a known genetic disorder. A not yet identified gene mutation may be the cause.
Frequent requests for ExomeScan include mental developmental delays such as intellectual or physical disabilities and congenital disorders.
The highest diagnostic yield is achieved with trio-sequencing. Next to the patient’s DNA, we analyze the DNA of both parents. Exclusion of all variants that are present in the unaffected parents, reveals only those mutations that are introduced by chance during fetal development: the de novo variants.
Also, both the data-analysis and interpretation becomes less complex when the manner of inheritance can be assessed: dominant, recessive or X-chromosome bound. Trio-sequencing increases the number of cases in which a definitive diagnosis can be given. For urgent diagnoses using ExomeScan Priority, trio-sequencing is compulsory.