Testing and results

Predictive testing is for people where:

• genetic testing has already been carried out in your family
• testing has confirmed that a mutation (fault) in a von Hippel-Lindau (VHL) syndrome gene is present in your family

You can have a test to see if you have inherited the same mutation. This is called a predictive test and it involves taking a blood sample.

Before we offer you a predictive test we will discuss with you what the test could mean for you and your family.  We will give you the opportunity to ask questions.

Your genetics clinician will talk to you about the many things to consider before deciding. You can read more about deciding whether to be tested. 

Predictive gene tests take 4 to 6 weeks once your blood sample has been received and we have all the information needed to carry out the test. Once the result is ready, you will be contacted and if appropriate offered further appointments.

Results of predictive testing

Predictive testing will confirm that either:

You have not inherited the familial VHL syndrome mutation 

• Although an inherited tendency to developing VHL-related tumours and cysts is present in your family, you have not inherited it.
• Your own risk of developing VHL-related tumours and cysts is not higher than anyone in the general population.
• As you do not have the mutation you cannot pass it on to your children. 

You have inherited the familial VHL syndrome mutation

• You will have an increased chance of developing the malignant and benign tumours and cysts associated with VHL syndrome. This does not mean that you will definitely develop any of these tumours or cysts. However, most people with VHL syndrome will develop some symptoms by the age of 65.