Tuberous sclerosis [2 genes]

  • It is a genetic disorder that affects the skin, brain and nervous system, kidneys, heart, and lungs. The condition can also cause tumors to grow in the brain. These tumors have the appearance of a tuber or root.
  • Tuberous sclerosis is a genetic condition. Changes (mutations) in one of two genes, TSC1 and TSC2, are responsible for most cases.
  • It is only necessary for one of the parents to transmit the mutation for her child to acquire the disease. However, most cases are due to new mutations. In most cases, there is no family history of the disease.
  • This condition is one of a group of diseases called neurocutaneous syndromes. There is involvement of both the skin and the central nervous system (brain and spinal cord).
  • There are no known risk factors beyond having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.

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Tuberous sclerosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-201907249

Tuberous sclerosis: View panel
  • TSC1
  • TSC2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Fiest KM, Sauro KM, Wiebe S, et al. Prevalence and incidence of epilepsy: a systematic review and meta-analysis of international studies. Neurology. 2017;88(3):296-303.
  2. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56(5):707-716.
  3. Wang J, Gotway G, Pascual JM, Park JY. Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol. 2014; 71(5):650-651.
  4. Myers KA, Johnstone DL, Dyment DA. Epilepsy genetics: Current knowledge, applications, and future directions. Clin Genet. 2019;95:95–111.