Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, eyes, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC2 gene, located on chromosome 16, plays a pivotal role in cellular growth and regulation. Mutations in this gene can lead to the development of Tuberous Sclerosis Type 2, a variant of the condition characterized by a more severe phenotype in comparison to mutations in TSC1.
Recognizing the symptoms of TSC2 gene Tuberous Sclerosis Type 2 is crucial for early diagnosis and management. Symptoms can vary widely among individuals but generally include:
- Cutaneous Manifestations: Skin abnormalities are common and may include hypomelanotic macules (white skin patches), facial angiofibromas, and shagreen patches.
- Neurological Symptoms: Seizures, which may be the first symptom of TSC, intellectual disabilities, developmental delays, and behavioral problems are common neurological manifestations.
- Renal Symptoms: Kidney involvement can range from benign angiomyolipomas to renal cysts and, in some cases, renal carcinoma.
- Pulmonary Symptoms: Although more common in adults, TSC can lead to the development of lymphangioleiomyomatosis (LAM), affecting the lungs and leading to breathing difficulties.
- Cardiac Symptoms: Cardiac rhabdomyomas, which are benign tumors of the heart, can be present at birth or develop in early childhood.
- Ophthalmologic Symptoms: Retinal hamartomas and other eye-related manifestations can occur, potentially impacting vision.
Given the complexity and variability of TSC2-related symptoms, genetic testing for TSC2 gene mutations is a critical step in the diagnostic process. DNA Labs UAE offers a comprehensive TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test, designed to detect mutations in the TSC2 gene. This test is instrumental in confirming the diagnosis of Tuberous Sclerosis Type 2, enabling targeted management and treatment strategies.
The cost of the TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the genetic analysis and a detailed report, which provides invaluable information for patients and their families. The test is conducted by experienced geneticists using state-of-the-art technology, ensuring high accuracy and reliability.
Early diagnosis and intervention are key in managing Tuberous Sclerosis Complex effectively. With the availability of genetic testing, individuals showing symptoms of TSC2 can gain a definitive diagnosis, leading to better-informed decisions regarding their health and treatment options. DNA Labs UAE is committed to providing comprehensive support and advanced genetic testing services to help individuals and families navigate the complexities of genetic conditions like Tuberous Sclerosis Type 2.
For more information about the TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test and to schedule an appointment, please visit https://dnalabsuae.com/tests/tsc2-gene-tuberous-sclerosis-type-2-genetic-test/.
