Newly Diagnosed

Please see our page on useful resources to do with Autism: Autism & Developmental Delays

Advice is provided on our On Diagnosis page which talks through various considerations for genetic testing.


You can find information on cancer risks for PHTS patients on our Screening Guidelines page with further information being available on our On Diagnosis page and in our PTEN Overview Video.

With PHTS being such a rare disease and there being only a small amount of data available currently, there are differences in opinion on the accuracy of reported cancer risks for PHTS patients.

If you are worried, please read our New to PHTS page, and also make sure you seek professional medical advice if required. Contact your GP and ask for a referral to a relevant specialist (e.g. Genetics Department, Counsellor, Oncologist) if needed. You can ask for as many referrals as you feel you need, at any time.

There are plenty of older people alive with the condition, but there is no official statistical data available currently. Diagnosis and appropriate screening enables early detection and treatment of any health problems that arise improving patient outcomes.

Category: Newly Diagnosed

PHTS has a broad spectrum of issues and severity. Common symptoms of PHTS are described in detail on our On Diagnosis page, but include things such as a large head (macrocephaly), developmental delay (both physical and mental), autism and potentially cancers usually in later life.



Category: Newly Diagnosed

Please ask for a referral from your GP, or if you are already in contact with a Genetics department or counsellor, you may be able to contact them directly. This can be done at anytime, whether on diagnosis or a long time after diagnosis.

From our Useful Resources page, you can get information such as –

Information on NHS Genetic Counselling services:
British Society for Genetic Medicine: Map of Genetics Centres:

Please take a look at our Screening Guidelines page for the latest information.

These are guidelines and your doctor will tailor your screening needs based on your specific circumstances and medical history.

If you are newly diagnosed with PHTS, we’d recommend checking out the following resources on our website –

– the New to PHTS page:,

– the On Diagnosis page:, and

– the PTEN Overview Video by Dr Katherine Lachlan:

We would also recommend joining our private Facebook group which is where most people chat and support each other:

Category: Newly Diagnosed

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