Short Description

NGS genetic DNA test detecets for variant and mutation detection in PMS1 gene for Nonpolyposis hereditary colon cancer, PMS1 related

PreTest Information

Clinical History of Patient who is going for PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic DNA Test gene PMS1

Detail Description

PMS1 Gene Nonpolyposis Hereditary Colon Cancer: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Nonpolyposis hereditary colon cancer (NPHCC) is a type of colon cancer that is inherited in an autosomal dominant pattern. This means that if a person has a mutation in a specific gene, they have a higher risk of developing colon cancer compared to the general population. One of the genes that can cause NPHCC is the PMS1 gene.

What is the PMS1 Gene?

The PMS1 gene is responsible for producing a protein that helps repair errors in DNA replication. When there is a mutation in the PMS1 gene, the protein is not produced correctly, and errors in DNA replication can accumulate. These errors can lead to the development of colon cancer.

Symptoms of NPHCC with PMS1 Gene Mutation

The symptoms of NPHCC with a PMS1 gene mutation are similar to those of other types of colon cancer. These symptoms may include:

• Changes in bowel habits, such as diarrhea or constipation
• Blood in the stool
• Abdominal pain or cramping
• Unexplained weight loss

It is important to note that not everyone with a PMS1 gene mutation will develop colon cancer. However, those with a mutation have a higher risk of developing the disease compared to the general population.

Diagnosing NPHCC with PMS1 Gene Mutation

Diagnosing NPHCC with a PMS1 gene mutation typically involves a combination of genetic testing and screening for colon cancer. Genetic testing can identify whether a person has a mutation in the PMS1 gene. Screening for colon cancer may include a colonoscopy, which allows a doctor to examine the colon for any abnormal growths or polyps.

NGS Genetic DNA Test Cost for PMS1 Gene Mutation

The cost of an NGS genetic DNA test for a PMS1 gene mutation can vary depending on the laboratory and location. In India, the cost for this test is typically around INR 20,000.

Conclusion

NPHCC with a PMS1 gene mutation is a type of colon cancer that can be inherited in an autosomal dominant pattern. Symptoms of this disease are similar to those of other types of colon cancer, and diagnosis typically involves a combination of genetic testing and screening for colon cancer. The cost for an NGS genetic DNA test for a PMS1 gene mutation in India is typically around INR 20,000.

It is important for those with a family history of colon cancer or a known PMS1 gene mutation to speak with their doctor about their risk and appropriate screening methods.