What does the TSC1 gene do?

What does the TSC1 gene do?

The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and size.

How much is genetic testing for tuberous sclerosis?

Genetic testing that is looking for a TSC mutation for the first time in a family can cost up to $5,000. This test involves sequencing the TSC1 and TSC2 genes and looking for mutations that may be causing TSC in that person.

What chromosome is TSC1?

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Is TSC1 or TSC2 more common?

Among individuals who met the clinical criteria, 75–90% had an identifiable mutation in either TSC1 or TSC2, and the majority of mutation-positive TSC patients have a mutation in TSC2. In sporadic cases, TSC2 mutations are 2–10 times more common than TSC1 mutations.

How is TSC diagnosed?

Diagnosis of the disorder is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain—which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs.

How do you test for tuberous sclerosis?

Tests for tuberous sclerosis

1. an eye examination – to check for eye tumours.
2. a skin examination – to look for abnormal growths or patches of pale or thickened skin.
3. an MRI scan – to detect tumours in the brain or kidneys.
4. a CT scan or ultrasound scan – to detect tumours in the kidneys, heart or lungs.

What is the FLCN gene?

The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein’s function, but they believe it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.

How are genetic tests used to diagnose TSC?

Many of the features of TSC are nonspecific, can occur as isolated findings, and can present as features of other conditions. Genetic testing may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.

Can a TSC2 test be used for hereditary cancer?

This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue. TSC1 and TSC2 can also be ordered as part of a broader panel to test for different types of hereditary cancer conditions.

How are TSC1 and TSC2 mutations determined?

Pathogenic variants in TSC1 and TSC2 are identified in approximately 85% of individuals who meet the clinical diagnostic criteria for TSC. Approximately one third of cases are inherited from an affected parent in an autosomal dominant pattern. The remainder are sporadic and occur as the result of a spontaneous de novo mutation.

Can a TSC1 or TSC2 be ordered?

TSC1 and TSC2 can also be ordered as part of a broader panel to test for different types of hereditary cancer conditions. Depending on the individual’s clinical and family history, one of these broader panels may be appropriate.