Symptoms and Testing information for TSC1 and TSC2 Gene Analysis Test

Symptoms and Testing information for TSC1 and TSC2 Gene Analysis Test

In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their mutations is crucial for the detection and management of various genetic disorders. Among these, the TSC1 and TSC2 genes play a significant role in the development of tuberous sclerosis complex (TSC), a genetic disorder that causes non-cancerous (benign) tumors to develop in many parts of the body. A comprehensive gene analysis test for TSC1 and TSC2 can provide vital information for individuals suspected of having TSC, guiding treatment and management decisions. The DNA Labs UAE offers a thorough TSC1 and TSC2 Gene Analysis Test, with detailed information available at The cost of the test is 7200 AED.

Symptoms of Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple systems within the body, leading to a wide range of symptoms. The severity and presence of symptoms can vary greatly from one individual to another, even among members of the same family. Some individuals may have mild symptoms or go undiagnosed, while others may experience significant health challenges. Common symptoms associated with TSC include:

  • Neurological Symptoms: Seizures are one of the most common neurological symptoms of TSC, affecting about 80-90% of individuals. Developmental delays, intellectual disabilities, and behavioral problems, including autism spectrum disorder, are also prevalent.
  • Renal Symptoms: Kidney problems are common in individuals with TSC, with benign growths called angiomyolipomas developing in up to 80% of adults with the condition. These growths can lead to complications such as bleeding or impaired kidney function.
  • Dermatological Symptoms: Skin abnormalities are often one of the earliest signs of TSC. These can include hypomelanotic macules (“ash leaf spots”), facial angiofibromas, and shagreen patches.
  • Cardiac Symptoms: Cardiac rhabdomyomas, benign heart tumors, are the most common heart-related manifestation of TSC, particularly in infants. These tumors can cause issues with heart rhythm or function, though they often regress with age.
  • Pulmonary Symptoms: Lymphangioleiomyomatosis (LAM), a rare lung condition, occurs predominantly in women with TSC and can lead to lung cysts, shortness of breath, and lung collapse.

Understanding TSC1 and TSC2 Gene Analysis Test

The TSC1 and TSC2 Gene Analysis Test is a comprehensive genetic test that examines the DNA sequences of the TSC1 and TSC2 genes for mutations that cause tuberous sclerosis complex. Mutations in these genes lead to the development of TSC by disrupting the normal regulation of cell growth and division, resulting in the formation of tumors and lesions in various organs. The test involves collecting a blood sample from the individual and analyzing the genetic material extracted from the sample.

This test is particularly important for individuals who have symptoms suggestive of TSC or have a family history of the condition. It can also be used to confirm a diagnosis of TSC, differentiate it from other conditions with similar symptoms, and inform treatment and management strategies. Additionally, the test can provide valuable information for family planning purposes.

Cost of the Test

The cost of the TSC1 and TSC2 Gene Analysis Test at DNA Labs UAE is 7200 AED. This cost reflects the comprehensive nature of the test, including the detailed analysis of the TSC1 and TSC2 genes, professional interpretation of the results, and the provision of a detailed report that can guide further medical action.

It’s important for individuals considering this test to consult with a healthcare provider or a genetic counselor to discuss the potential benefits, limitations, and implications of the test results. This discussion can help individuals make informed decisions about their health and the management of conditions like tuberous sclerosis complex.

For more information about the TSC1 and TSC2 Gene Analysis Test, including how to arrange for testing, please visit

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