Logo Erasmus MC.
Topbalk beeld rechts.
Klik op deze knop om alle folders te doorzoeken.Zoek folders
Klik op deze knop om dit document te printen.Print pagina
Klik op deze knop om dit document als PDF te downloaden.Download PDF
Klik op deze knop om de tekstgrootte te vergroten.Grotere tekst
Klik op deze knop om de tekstgrootte te verkleinen.Kleinere tekst

Klinische genetica

De knop om deze folder als favoriet te markerenFavorietDe knop om deze folder per email door te sturen.Stuur door

Genetic testing

Genetic testing

Information for patients

Genetic testing

Information for patients

Your doctor has suggested that you undergo genetic testing. More information about this testing is provided below.

Why this test?

Your disorder/condition might be caused by a change in the DNA. The purpose of the genetic testing is to identify this change. Identification of the change in the DNA that causes your condition might help with treatment, monitoring and family planning decisions.

What is required for testing?

You will be required to provide a blood sample and DNA will be extracted from this sample. A blood sample from your biological parents might also be required to compare your DNA with that of your parents.

Which test?

What are the possible outcomes?

  1. Cause found: A change in your DNA was identified that is (likely to be) the cause of the disorder. This can tell us more about the inheritance pattern of your disorder in the family. Sometimes a prediction can be made about how the disorder will develop in the future, what monitoring is required and whether treatment is possible.
  2. No cause found: No change in your DNA was identified that is (likely to be) the cause of the disorder. There are two possible reasons for this:
    1. The disorder is not caused by a change in your DNA.
    2. The disorder is caused by a change in your DNA that cannot be identified with the current test. The doctor will discuss whether there are any options for further testing with you.
  3. Inconclusive result: A change in your DNA was identified, but it is not clear if this is the cause of your disorder. It could be something of no significance and it might be helpful to test other family members and/or perform additional tests. There is no obligation, and you are completely free to ask your family members for their cooperation.

Unsolicited findings

In addition to the above results, it is possible that a change in the DNA may be identified that is not the cause of your disorder, but instead plays a role in another genetic disorder/condition. This is called an unsolicited finding.

What types of unsolicited findings are there, and which ones will be reported?

  1. The predisposition to a disorder will be reported to you if medical treatment or monitoring is possible. You can opt out if you do not wish to be informed of these findings.
  2. The predisposition to a disorder is not reported to you if (based on the current knowledge of the condition in question) no medical treatment or monitoring is possible. You can, however, opt in if you wish to be informed of these findings.
  3. If there is a high risk (25% or higher) of a disorder in any of your (unborn) children or your children’s children, you will be informed, unless you decide to opt out.

What are the limitations of the test?

The test is used to try and identify the change in your DNA that causes the disorder. However, the test is unable to identify all of the possible changes in your DNA and it is possible that the test will not identify the cause of you disorder.

Implications for family members

The results may also be of significance for other members of your family, now or in the future. They, or their (unborn) children, might have an increased risk of inheriting the disorder. If this is the case, your doctor will provide you with information that you can share with your family.

When can I expect the results?

The doctor will inform you about when and how you will receive the results.

Insurance cover

In most cases, the costs of the test should be covered by the health insurance. Ask your health insurance provider for details. You only pay your own risk if it has not yet already been used-up for that year. In the event that your parent's DNA will also be tested to compare their DNA with yours, then these costs will be covered by your health insurance.

Will the DNA test have consequences for insurance policies?

Genetic testing can affect the ability to take out some types of insurance policy, such as disability insurance or life insurance. More information please contact your insurer or insurance advisor.

Future contact

On completion of the genetic test, no further active search for the genetic cause of your disorder will be carried out. However, it is possible that in the future, new data or information, important to you, will become available.

The costs of any follow-up tests will be declared to the health insurer and may be charged. Please check with your insurance provider.

What happens to the DNA?


If you have any questions after reading this information or would like to change your consent status, please contact your consultant clinical geneticist at the Department of Clinical Genetics at the Erasmus Medical Center: 010 703 6915 or ervo@erasmusmc.nl. For more information about the department see www.erasmusmc.nl.

Deze website maakt gebruik van cookies. Lees onze cookieverklaring .