U.S. flag

An official website of the United States government

GTR Home > Tests > Tuberous Sclerosis Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

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

Help

Individuals with clinical features of tuberous sclerosis complex

Citations

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

Clinical validity

Help

Establish or confirm a diagnosis

Citations

Not provided

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • 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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.