Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSC1 gene for Tuberous sclerosis

PreTest Information

Clinical History of Patient who is going for TSC1 Gene Tuberous sclerosis NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSC1 Gene Tuberous sclerosis

Detail Description

TSC1 Gene and Tuberous Sclerosis: NGS Genetic DNA Test Cost, Symptoms, Diagnosis

Tuberous sclerosis is a rare genetic disorder that affects many organs in the body. It is caused by mutations in the TSC1 and TSC2 genes, which provide instructions for making proteins that help regulate cell growth and division. When these proteins are not functioning properly, cells can grow and divide uncontrollably, leading to the formation of noncancerous tumors in various organs.

The TSC1 gene is located on chromosome 9 and encodes for a protein called hamartin, which helps regulate cell growth and division. Mutations in the TSC1 gene can lead to the development of tuberous sclerosis.

Symptoms of Tuberous Sclerosis

Tuberous sclerosis can affect many organs in the body, including the brain, skin, kidneys, heart, and lungs. Symptoms can vary widely depending on which organs are affected and the severity of the condition.

Some common symptoms of tuberous sclerosis include:

• Developmental delays and intellectual disability
• Seizures
• Skin abnormalities, such as facial angiofibromas and shagreen patches
• Benign tumors in the brain (cortical tubers)
• Kidney tumors (angiomyolipomas)
• Lung tumors (lymphangioleiomyomatosis)

Diagnosing Tuberous Sclerosis

Tuberous sclerosis can be difficult to diagnose because symptoms can vary widely and may not appear until later in life. A diagnosis is typically made based on a combination of clinical evaluation, imaging studies, and genetic testing.

Imaging studies, such as CT scans and MRI, can help identify tumors in various organs. Genetic testing, such as next-generation sequencing (NGS), can detect mutations in the TSC1 gene and confirm a diagnosis of tuberous sclerosis.

NGS Genetic DNA Test Cost for Tuberous Sclerosis

The cost of NGS genetic DNA testing for tuberous sclerosis can vary depending on the testing laboratory and the specific tests performed. In India, the cost of NGS genetic DNA testing for tuberous sclerosis is typically around INR 20,000.

Conclusion

Tuberous sclerosis is a rare genetic disorder that can cause a wide range of symptoms and affect many organs in the body. It is caused by mutations in the TSC1 and TSC2 genes, which regulate cell growth and division. Diagnosis can be difficult, but imaging studies and genetic testing can help confirm a diagnosis. NGS genetic DNA testing for tuberous sclerosis typically costs around INR 20,000 in India.

If you suspect you or a loved one may have tuberous sclerosis, speak with your healthcare provider about getting tested for the condition.

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 TSC1 Gene Tuberous sclerosis NGS Genetic DNA Test