Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSC2 gene for Tuberous sclerosis type 2

PreTest Information

Clinical History of Patient who is going for TSC2 Gene Tuberous sclerosis type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSC2 Gene Tuberous sclerosis type 2

Detail Description

TSC2 Gene: Understanding Tuberous Sclerosis Type 2 through NGS Genetic DNA Test

Tuberous sclerosis type 2 (TSC2) is a rare genetic disorder that affects multiple organ systems. It is caused by mutations in the TSC2 gene, which provides instructions for making a protein called tuberin. This protein helps regulate cell growth and division. When the TSC2 gene is mutated, cells grow and divide uncontrollably, leading to the formation of noncancerous tumors in various parts of the body.

TSC2 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the gene to develop the condition. The severity of TSC2 can vary widely, even among members of the same family who have the same gene mutation.

Symptoms of TSC2

The symptoms of TSC2 can vary depending on the location and size of the tumors. Some people with TSC2 may have no symptoms at all, while others may experience:

• Seizures
• Intellectual disability
• Skin abnormalities, such as white patches or raised bumps
• Lung or kidney problems
• Behavioral problems

Diagnosis of TSC2

TSC2 can be diagnosed through genetic testing, which analyzes a person’s DNA to look for mutations in the TSC2 gene. One type of genetic testing that can be used to diagnose TSC2 is called next-generation sequencing (NGS). NGS is a high-throughput, automated method that analyzes multiple genes simultaneously, allowing for faster and more comprehensive testing.

NGS testing for TSC2 typically costs around INR 20,000 in India. The test involves taking a small blood sample or cheek swab from the patient, which is sent to a laboratory for analysis. Results are usually available within a few weeks.

Conclusion

TSC2 is a rare genetic disorder that can cause a wide range of symptoms. It is caused by mutations in the TSC2 gene, which can be detected through genetic testing, including NGS. If you or a loved one is experiencing symptoms of TSC2, it is important to speak with a healthcare provider about getting tested for the condition. Early diagnosis and treatment can help improve outcomes and quality of life for those with TSC2.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS testing for TSC2. Our team of experts can help you understand the testing process and provide guidance on next steps based on your results. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TSC2 Gene Tuberous sclerosis type 2 NGS Genetic DNA Test