You should consider genetic testing if you or your family members meet one or more of the following criteria:
Personalised management
Confirming a diagnosis of hereditary PGL/PCC syndrome would be beneficial for early diagnosis and timely surveillance. This helps to detect tumours/cancers at their earliest and most treatable stage, avoiding irreversible or serious medical complications. For individuals planning a family, reproductive options may also be available.It is also important to identify which faulty SDHx gene you may have inherited, as the different genes are associated with different tumour/cancer risks which would influence how doctors plan for your medical management.
Familial implications
Your genetic test result can also help you understand if other family members are at risk of hereditary PGL/PCC syndrome. 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 SDHx 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 SDHx gene can avoid unnecessary screening and worry. Their children will also not be at risk.
Subscribe to our mailing list to get the updates to your email inbox...