Tuberous sclerosis

Diagnosis and Testing

How do I get tested for tuberous sclerosis?

Tuberous sclerosis is a rare disease and often receiving a proper diagnosis can be a challenge. Usually, doctors suspect tuberous sclerosis because of specific symptoms or because of a known family history of the disorder. In 2012, the Tuberous Sclerosis Complex Conference published diagnostic criteria for the disorder. This document separates the symptoms into major and minor criteria. If people have two major criteria or one major criteria and two or more minor criteria, doctors may conduct tests to see if they have tuberous sclerosis.

Major criteria include small patches of white skin or skin that is lighter than the surrounding skin (hypopigmented macules), seizures, autistic behaviors, certain benign tumors of the brain or kidneys, or a heart tumor called a rhabdomyosarcoma. The full document which explains all the major and minor criteria is available online at: Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

A doctor will do a complete physical examination and talk about a patient and family's medical history. Tuberous sclerosis can be confirmed by genetic testing. These tests involve studying TSC1 and TSC2 genes for changes (mutations or other changes) that are known to cause the disorder. If tuberous sclerosis is confirmed, a doctor may order additional tests to see what organ systems are involved, to what extent they are involved, and how far along the disorder is.

If you believe that you or your child has tuberous sclerosis, you can request or seek out a referral to a Tuberous Sclerosis Complex (TSC) Clinic or genetics clinic. The Tuberous Sclerosis Alliance has information on these clinics. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

References
  • Northrup H, Krueger DA, on behalf of the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct; 49(4): 243-254. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080684/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 ;62(3):633-48. https://www.ncbi.nlm.nih.gov/pubmed/26022167
  • TSC Clinics. The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/healthcare-professionals/tsc-clinics/
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More Diagnosis and Testing Content

Is there newborn screening for tuberous sclerosis?

What tests support a diagnosis of tuberous sclerosis?

Who else in my family should I test for tuberous sclerosis?

Can tuberous sclerosis be detected before birth?

Is there newborn screening for tuberous sclerosis?

Tuberous sclerosis (TS) is not one of the disorders that is automatically tested for at birth. Accordingly, TS often goes undiagnosed until young adulthood. However, if a baby has health problems such as a a benign heart tumor called a rhabdomyosarcoma that could be caused by tuberous sclerosis, genetic testing is available. The easiest way to find testing for the disorder is to talk with the pediatrician or primary doctor about a referral for a genetics evaluation.

Further information about genetic testing for TS in your area can also be obtained through a genetic counselor. To find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website.

More Information about newborn screening programs can be found at Save Babies Through Screening Foundation or Baby's First Test.

References
  • Save Babies Through Screening Foundation website. http://savebabies.org/
  • Baby's First Test website. http://www.babysfirsttest.org/
What tests support a diagnosis of tuberous sclerosis?

There are a variety of tests a doctor may do to confirm a diagnosis of tuberous sclerosis (TS). Typically, a diagnosis of TS begins with a physical exam looking for features such as small tumors or characteristic TS skin findings. Doctors may also order testing such as a magnetic resonance imaging (MRI) of the brain or abdomen or echocardiogram of the heart to look for benign tumors or cysts. They may also order an electroencephalogram (EEG) to detect subclinical seizure activity. Subclinical means that a person is experiencing seizures, but they are so small that there are no obvious outward signs. There may also be an neuropsychiatric evaluation to identify intellectual disability or behavioral issues.

Once a clinical diagnosis of TS is suggested or there is TS in the family, molecular genetic testing can also be used to confirm a diagnosis of tuberous sclerosis. These tests involve studying the TSC1 or TSC2 genes for changes that can cause TS. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or gene-targeted deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

To find a genetic medical professional nearby who can discuss information and testing, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
Who else in my family should I test for tuberous sclerosis?

In a family with tuberous sclerosis, genetic tests can be done to see whether other family members have the disorder. The fastest and simplest genetic test is to look for a known gene change causing TS in a specific family. If known, all siblings and other at-risk relatives can be tested for just that change. If a child is diagnosed with tuberous sclerosis, parents should undergo testing. Parents may have an altered TSC1 or TSC2, but may be undiagnosed because they have mild symptoms or they are mosaic for the disorder. Mosaicism is when an altered gene only appears in a percentage of a person's cells. Sometimes, people are mosaic for a disorder and do not have any symptoms, but can potentially pass on the disorder to their children. If the underlying changes in the TSC1 or TSC2 genes are not known in a family, then molecular genetic testing, which are tests that look for changes to genes, can be performed on an affected individual.

A genetic counselor or medical geneticist with experience in tuberous sclerosis can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Genetics and a genetic counselor can be found through the National Society of Genetic Counselors.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
Can tuberous sclerosis be detected before birth?

Some parents may choose to have their child tested for tuberous sclerosis before they are born. This is known as prenatal diagnosis. If the gene change(s) that cause tuberous sclerosis are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the TSC1 or TSC2 genes via chorionic villus sampling or amniocentesis.

Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available. During this process, embryos are created through in vitro fertilization (IVF) by taking eggs from the mother and sperm from the father. The two are then combined in the laboratory. A few cells are removed from the embryo and are then tested to determine whether that specific embryo inherited the altered gene(s). Then, the family can choose to only have the embryos without tuberous sclerosis transferred to create the pregnancy.

It is important to understand that although tuberous sclerosis can be diagnosed before birth, the severity of the disorder cannot be determined. Tuberous sclerosis has a significant variability in expression with some people only mildly affected.

Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

References
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • Curatolo P. Tuberous Sclerosis Complex. OrphaNet website. Accessed June 8, 2017. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=805

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