Tuberous Sclerosis Complex: Tests and Diagnosis

What tests are used to diagnose tuberous sclerosis complex?

Your child’s doctors will likely perform several tests to help him or her diagnose tuberous sclerosis complex (TSC). These tests may be arranged before, during or after your visit to Children’s Hospital Colorado.
The most common TSC tests include procedures to help doctors physically see any tumors like:

  • Brain MRI and other advanced neuro-imaging to visualize tumors
  • EKG
  • Echocardiogram
  • Electroencephalogram (EEG)
  • Chest computerized tomography (Chest CT )
  • Renal ultrasound

A genetic test will also be performed to find out if your child has a known mutation in the TSC1 or TSC genes.
If your child is diagnosed with TSC, he or she will usually have a brain MRI and ultrasound of the kidneys each year to check tumor growth. Other tests may be performed as needed, depending on how and where a child is affected.

How do providers at Children’s Hospital Colorado make a diagnosis?

Tuberous sclerosis can be diagnosed clinically, through a physical examination, or genetically, with a blood test.

A doctor at Children’s Colorado will make a clinical diagnosis after finding positive signs of the disease, such as skin conditions or tumors in the brain, heart or kidneys. Signs of TSC on the skin are often used to diagnose the condition.