How is PHTS diagnosed?

Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome were identified before the PTEN gene was discovered and before genetic testing became available.

Today, PHTS is suspected if people have a combination of symptoms linked with the condition. If this is the case, a doctor may recommend that a person takes a genetic test to see if they carry a PTEN mutation, confirming a diagnosis of PHTS. The exact number of symptoms required to prompt such a test varies, depending on whether anyone else in the family has or had PHTS, and the clinical guidelines used where the individual lives.

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Like other rare genetic conditions, it may take a while to find a doctor who is familiar enough with the condition to understand what the pattern of symptoms could mean. This means it can take time before an accurate diagnosis is reached.

What does a genetic test involve?

Going for a genetic test is like going for a blood test. Blood is usually taken from your arm. The DNA is then extracted from the blood and analysed.

A doctor might recommend getting a single gene test if they are confident that an altered PTEN gene can explain the symptoms, or, if they are less sure, a panel test that looks at several genes at once. If neither of these tests reveals a mutated gene, more comprehensive genetic tests might be considered.

In the UK and the US, you can ask your GP or hospital specialist about being referred to your local genetic service. They may suggest you also see a genetic counsellor. This is someone who can offer support and can fully explain the implications of the result and what it means for the rest of your family. The process of getting a referral may vary in other countries. Please seek advice from your healthcare provider.

It can take anything from a few weeks to several months to receive the results of a genetic test. This depends on the specific test being done and the test provider.

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