To diagnose tuberous sclerosis, you'll be asked about your family's medical history. You'll also have a number of tests to look for signs of the condition.

Healthcare professionals use a checklist of the characteristic features of tuberous sclerosis – such as abnormal areas of skin, or tumours in your eyes, brain, heart, lungs or kidneys – to confirm a diagnosis. Several tests will be needed to check for these features.

Finding out about your family's medical history is also important because tuberous sclerosis can sometimes run in families.

Tests for tuberous sclerosis

Tests you may have to check for tuberous sclerosis include:

A genetic blood test to look for the faulty genes that cause tuberous sclerosis can also help make a diagnosis, although it isn't always reliable.

Page last reviewed: 9 August 2021
Next review due: 9 August 2024