Tuberous Sclerosis Complex | Testing & Diagnosis

How is tuberous sclerosis complex diagnosed?

Tuberous sclerosis complex (TSC) can cause a wide variety of symptoms. Many of them, such as seizures and developmental delays, are common in children who do not have TSC. Therefore, in order to diagnose the condition, doctors look for a group of symptoms. Some of the symptoms are present at birth, such as tumors on the heart and white patches on the skin.

Your child’s medical team may run a number of different tests to diagnose TSC, including:

  • Magnetic resonance imaging (MRI) of the brain to look for tumors in the brain and renal system that often occur in children with TSC.
  • Echocardiogram (an ultrasound of the heart) to look for tumors on the heart.
  • Ultrasound to identify any kidney lesions.
  • Genetic testing to look for a TSC-related gene change. About 20 percent of people who have TSC-related gene change. About 20 percent of people who have TSC do not have an identifiable gene change. Therefore a negative genetic test result cannot rule out a child having the condition.

Prenatal diagnosis

Sometimes heart tumors are seen during a routine prenatal ultrasound. These heart tumors can be an early sign of TSC. If your clinician sees this type of tumor, he or she may refer you for advanced ultrasound screening.