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GTR Home > Tests > Tuberous Sclerosis Panel


This is a clinical test intended for Help: Diagnosis

Clinical summary


Imported from GeneReviews

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Conditions tested

Target population


Individuals with clinical features of tuberous sclerosis complex


  • Nat Rev Dis Primers. 2016 May 26;2:16035 (PMID: 27226234)

Clinical validity


Establish or confirm a diagnosis


Not provided

Clinical utility


Establish or confirm diagnosis

  • Nat Rev Dis Primers. 2016 May 26;2:16035 (PMID: 27226234)

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • Orphanet, 2007
    Orphanet, Tuberous sclerosis, 2007

Consumer resources

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