Familial adenomatous polyposis (FAP) is a hereditary condition that primarily increases the risk of developing numerous polyps in the colon and rectum. While the classical form of FAP, associated with mutations in the APC gene, is more commonly known, there is a variant termed MYH-associated polyposis (MAP), or MUTYH-associated polyposis, which is attributed to mutations in the MUTYH gene. Unlike the classical form of FAP that follows an autosomal dominant inheritance pattern, MAP is inherited in an autosomal recessive manner, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Symptoms of MUTYH-associated polyposis may vary among individuals but typically include the development of multiple adenomatous polyps in the colon during adolescence or early adulthood, which can become cancerous if not detected and removed timely. Given the severe implications of the condition, genetic testing for mutations in the MUTYH gene is a crucial step for at-risk individuals or those displaying symptoms suggestive of MAP.
Symptoms of MUTYH Gene Familial Adenomatous Polyposis Type 2
The symptoms of MUTYH-associated polyposis can closely resemble those of classical FAP but usually appear at a later age. Key symptoms include:
- Development of multiple adenomatous polyps in the colon and rectum, often fewer in number than seen in classical FAP but still significant.
- A family history of colon cancer, especially if parents are carriers of the MUTYH mutation.
- Blood in the stool, which may be a sign of polyps or colon cancer.
- Abdominal pain or discomfort, which can be caused by large polyps.
- Diarrhea or constipation, indicating changes in bowel habits.
It’s important to note that the presence of these symptoms does not definitively diagnose MAP; however, they warrant further investigation through genetic testing.
Genetic Test for MUTYH Gene Familial Adenomatous Polyposis Type 2
The genetic test for MUTYH-associated polyposis is a comprehensive analysis designed to identify mutations in the MUTYH gene. This test is crucial for individuals with a family history of MAP, those displaying symptoms, or those who have been found to have multiple adenomatous polyps upon colonoscopy. The process involves collecting a DNA sample, typically through a blood draw or a saliva sample, which is then analyzed in a laboratory for the presence of MUTYH gene mutations.
Identifying the presence of these mutations can help in the early detection and management of MAP, guiding decisions on surveillance and preventive measures, including regular colonoscopies and, in some cases, surgical interventions to remove polyps or the colon to prevent the development of cancer.
Cost of the Genetic Test
The cost of the MUTYH gene familial adenomatous polyposis type 2 genetic test is 4400 AED. This investment in your health allows for a comprehensive analysis of the MUTYH gene to identify mutations associated with MAP. Early detection and management of the condition can significantly reduce the risk of developing colon cancer, highlighting the value of the test for those at risk.
For more detailed information on the MUTYH gene familial adenomatous polyposis type 2 genetic test and to understand how it can be beneficial for you or your family, please visit DNA Labs UAE.
In conclusion, MUTYH-associated polyposis is a condition that requires prompt attention and management to prevent severe health implications, including colon cancer. Understanding the symptoms and undergoing genetic testing if you are at risk are vital steps in managing the condition. With the test cost of 4400 AED, DNA Labs UAE offers a pathway to identifying your risk and taking proactive measures for your health and well-being.
