Tuberous Sclerosis Complex (TSC) is an inherited neurocutaneous disorder that is characterized by pleomorphic features involving many organ systems. One of the main features of this disorder is the presence of multiple benign hamartomas of the brain, eyes, heart, lung, liver, kidney and skin. It is an autosomal dominant genetic disorder caused by mutations in genes TSC1, TSC2 or IFNG that in turn affect cellular differentiation, proliferation and migration early in development. The most characteristic feature of TSC is adenoma sebaceum, which appears in late childhood or early adolescence. There is an increased risk of malignancy and susceptibility to epilepsy.
The Igenomix Tuberous Sclerosis Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Tuberous Sclerosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Hamartomas and benign neoplasms in brain and various tissues (cerebral cortex, retina, heart, kidney)
- Adenoma sebaceum (angiofibromas)
- Hypopigmented macules
- Shagreen patches
- Behavioral problems
- Psychosocial difficulties
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of multidisciplinary treatment in the form of medical care with immunosuppressant medication as well as antiepileptic medications to prevent seizures. Early and routine surveillance is needed for malignancy screening. Surgical care for seizures may be necessary.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Crino, P., Nathanson, K., & Henske, E. (2006). The Tuberous Sclerosis Complex. New England Journal Of Medicine, 355(13), 1345-1356. doi: 10.1056/nejmra055323
Schwartz, R., Fernández, G., Kotulska, K., & Jóźwiak, S. (2007). Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. Journal Of The American Academy Of Dermatology, 57(2), 189-202. doi: 10.1016/j.jaad.2007.05.004
Curatolo, P., Bombardieri, R., & Jozwiak, S. (2008). Tuberous sclerosis. The Lancet, 372(9639), 657-668. doi: 10.1016/s0140-6736(08)61279-9
DiMario, F., Sahin, M., & Ebrahimi-Fakhari, D. (2015). Tuberous Sclerosis Complex. Pediatric Clinics Of North America, 62(3), 633-648. doi: 10.1016/j.pcl.2015.03.005
Randle S. C. (2017). Tuberous Sclerosis Complex: A Review. Pediatric annals, 46(4), e166–e171. https://doi.org/10.3928/19382359-20170320-01
Portocarrero, L., Quental, K. N., Samorano, L. P., Oliveira, Z., & Rivitti-Machado, M. (2018). Tuberous sclerosis complex: review based on new diagnostic criteria. Anais brasileiros de dermatologia, 93(3), 323–331. https://doi.org/10.1590/abd1806-4841.20186972