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Individuals can be diagnosed with CS through a physical examination and clinical evaluation by a doctor with experience in managing the condition, to assess if the clinical diagnostic criteria of CS is met.
If a patient is found to meet clinical testing criteria or to have features suggestive of CS, genetic testing may be offered.
Genetic testing is usually recommended for individuals who meet one or more of the criteria below:
Note: The criteria outlined here may change as more information is available.
Your genetic test result may help confirm a clinical diagnosis of CS. Understanding if you have CS provides you with options for managing your risk of tumours/cancer.For example, screening options may be recommended to you which can help to detect tumours/cancer at its earliest, most treatable and manageable stage.In some cases, you may choose to undergo surgery that can help to reduce your risk of developing cancer (not standard management). For individuals planning a family, dedicated reproductive options may also be available.
Your genetic test result can also help you understand if other family members are at risk of CS. 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 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 gene can avoid unnecessary screening and worry. Their children will also not be at risk.