Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMAD4 gene for Juvenile polyposis syndrome

PreTest Information

Clinical History of Patient who is going for SMAD4 Gene Juvenile polyposis syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD4 Gene Juvenile polyposis syndrome NGS Genetic DNA Test gene SMAD4

Detail Description

SMAD4 Gene Juvenile Polyposis Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder that causes multiple polyps to develop in the digestive tract, usually in the colon or rectum. These polyps can become cancerous if not treated, which is why it is important to get tested if you suspect you have JPS. One of the genes that has been linked to JPS is the SMAD4 gene, and the best way to get tested for this gene is through a Next-Generation Sequencing (NGS) Genetic DNA Test.

What is the SMAD4 Gene?

The SMAD4 gene is responsible for producing a protein that helps regulate cell growth and division. When the SMAD4 gene is mutated, it can cause cells to grow and divide uncontrollably, which can lead to the development of polyps and cancerous tumors. Mutations in the SMAD4 gene have been linked to several different types of cancer, including pancreatic cancer and colorectal cancer.

What is Juvenile Polyposis Syndrome?

Juvenile Polyposis Syndrome is a rare genetic disorder that causes multiple polyps to develop in the digestive tract, usually in the colon or rectum. These polyps are usually benign, but they can become cancerous if not treated. Symptoms of JPS can include abdominal pain, diarrhea, rectal bleeding, and anemia. JPS is usually diagnosed in childhood or adolescence, but it can also be diagnosed in adulthood.

What is Next-Generation Sequencing (NGS) Genetic DNA Testing?

Next-Generation Sequencing (NGS) Genetic DNA Testing is a type of genetic testing that uses advanced technology to sequence an individual's DNA. This type of testing can identify mutations in genes that are linked to certain diseases, including Juvenile Polyposis Syndrome. NGS testing is more accurate and comprehensive than other types of genetic testing, making it the best choice for individuals who suspect they may have JPS.

What is the Cost of NGS Genetic DNA Testing for the SMAD4 Gene?

The cost of NGS Genetic DNA Testing for the SMAD4 gene in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific tests that are performed. It is important to discuss the cost of testing with your healthcare provider or the laboratory where the testing will be performed.

How is Juvenile Polyposis Syndrome Diagnosed?

Juvenile Polyposis Syndrome is usually diagnosed through a combination of medical history, physical examination, and genetic testing. If an individual has a family history of JPS or has symptoms of the disorder, their healthcare provider may recommend genetic testing to identify any mutations in genes that are linked to JPS, such as the SMAD4 gene.

Conclusion

Juvenile Polyposis Syndrome is a rare genetic disorder that can cause multiple polyps to develop in the digestive tract, which can become cancerous if not treated. The SMAD4 gene has been linked to JPS, and the best way to get tested for this gene is through Next-Generation Sequencing (NGS) Genetic DNA Testing. The cost of NGS testing for the SMAD4 gene in India is approximately INR 20,000. If you suspect you may have JPS, it is important to discuss genetic testing with your healthcare provider or the laboratory where the testing will be performed.