You may be clinically diagnosed with VHL if you meet two or more of following criteria:
You should consider genetic testing if you or your family members meet one or more of the following criteria:
The genetic testing criteria and guidelines for VHL testing may change as more information is available.
Personalised managementThere are several hereditary conditions (associated with different genes) which can predispose to features/symptoms similar to what is seen in individuals with VHL.Genetic testing is therefore beneficial to confirm a diagnosis of VHL, to determine whether personalised recommendations such as early and regular screenings are necessary to reduce risks associated with the condition.As VHL is a hereditary condition, testing can also help inform of reproductive risks, and help determine if testing is necessary for your family members and facilitate testing if so.
Familial implicationsYour genetic test result can also help you understand if other family members are at risk of VHL. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.Family members who have inherited the same faulty VHL gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).Family members who did not inherit the faulty VHL gene can avoid unnecessary screening and worry. Their children will also not be at risk.
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