Whole Exome Sequencing (WES)

To order a Whole Exome Sequencing (WES) trio analysis, please complete the order procedure via the catalog.

WES Trio € 3.190

Note: the turnaround time of the WES test is between 4 and 6 months. WES is asked in TRIO, for reliable and thorough biostatistic and validation check for a.o. causal variants and VUS. Variants are classified based on our clinical expertise, our patients’ data sets and on literature.

More information about WES can be found at ‘about Whole Exome Sequencing’. For detailed technical information contact info@amsterdamgenomedx.com

Consent Form for Exome Sequencing

Download the ConsentFormforExomeSequencing (pdf).

Whole Exome Sequencing (WES) can be ordered for identifying a genetic cause of a disease, where standard diagnostic procedures have failed. WES can be requested when examination of individual candidate genes has not yielded a diagnosis. WES is a powerful technique to provide a targeted overview of all the protein-coding regions of the patients’ genome. However, whole exome sequencing may also yield clinically meaningful variants, unrelated to the targeted disease.

We recommend this test

  • when your patient’s disease appears to be a genetic disorder without a prior known genetic cause.
  • when the disease involves multiple genes and captured gene-panels are not your first choice.

The genetic material: the exome

The human DNA contains approximately 20-23,000 genes. The exons of a gene contain the information for the production of a protein with a specific function. Most of the disease-causing variants are located in the exons of the genes. WES is designed to investigate all exons of the 20-23,000 genes simultaneously. All the exons together are called the exome.

The genetic material for WES will be extracted from blood samples. After the WES is completed, the DNA is stored according to the Dutch law. The stored DNA can be used anonymously for scientific research (see Use of patient material).

The results of WES

We listed the various outcomes of WES:

  1. A variant is found in a gene that is responsible for the genetic disorder and/or congenital abnormality for which the investigation is requested.
  2. A variant with an unclear clinical significance is found. In that case family blood samples may be requested for a follow up study. This follow up study may clarify whether the variant is the cause for the genetic disorder and/or congenital abnormality for which the investigation is requested or not. Sometimes, no final conclusions can be made about the significance of a detected variant.
  3. No clinical significant variant is found. The genetic disorder and/or congenital abnormality remains as yet unexplained. It is not excluded that in the future (after improvement of the techniques used for investigations) a variant will be discovered. In that case you may be again contacted to discuss the results with you.
  4. A variant is found associated with a genetic disorder not related to the disorder. For example, a genetic predisposition to cancer or predisposition to a neurological disorder. This is a so called unsolicited finding.
  5. A variant is found for which the patient is carrier only. This has no direct consequences for the patient, however it can have consequences for the offspring or can be relevant for relatives. This is also called an unsolicited finding.

In case of unsolicited findings, an independent committee of experts will discuss whether the knowledge about the unsolicited finding is of the patient’s immediate interest. Unsolicited findings at this point, directly relevant to the patients’ health or family members, will be discussed with you.

Use of the data for scientific research

The WES results will be stored anonymous, so no personal information will be kept. The data can be shared anonymously with other research groups in order to gain a better understanding of which changes in the patients DNA lead to an inherited disorder, and which changes do not have clinical consequences.

Permission for WES

Your patient has to give permission for Whole Exome Sequencing (WES) by signing the enclosed consent form. Permission for children or incapacitated should be given by the parent/guardian/curator. The patient has the right to withdraw his/her previously given consent at any time.