Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMELX gene for Amelogenesis imperfecta type 1E

PreTest Information

Clinical History of Patient who is going for AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic DNA Test gene AMELX

Detail Description

AMELX Gene and Amelogenesis Imperfecta Type 1E: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Amelogenesis Imperfecta Type 1E is a rare genetic disorder that affects the development of tooth enamel. It is caused by mutations in the AMELX gene, which provides instructions for making a protein called amelogenin. This protein is essential for the formation and mineralization of tooth enamel.

Symptoms

The symptoms of Amelogenesis Imperfecta Type 1E can vary depending on the severity of the mutation. Some common symptoms include:

• Thin, weak, or discolored enamel
• Rough or pitted enamel surface
• Increased susceptibility to tooth decay and erosion
• Delayed eruption of permanent teeth
• Abnormal tooth shape and size

People with Amelogenesis Imperfecta Type 1E may also experience sensitivity to hot or cold temperatures and have difficulty chewing or biting.

Diagnosis

Diagnosis of Amelogenesis Imperfecta Type 1E typically involves a thorough dental exam, including a review of the patient's medical and family history. X-rays and other imaging tests may also be used to evaluate the teeth and jaw. Genetic testing can confirm the presence of mutations in the AMELX gene.

NGS Genetic DNA Test Cost

NGS Genetic DNA testing is a highly accurate and efficient way to identify mutations in the AMELX gene. At DNA Labs India, we offer this test for a cost of INR 20,000. This includes a comprehensive analysis of the patient's DNA sample, as well as a detailed report of the results.

NGS Genetic DNA testing can be particularly useful for families with a history of Amelogenesis Imperfecta Type 1E, as it can help identify carriers of the mutation and guide family planning decisions. It can also be helpful for individuals with unexplained dental problems that may be related to genetic factors.

Conclusion

Amelogenesis Imperfecta Type 1E is a rare genetic disorder that can have significant impacts on dental health and quality of life. With the help of modern genetic testing technologies, however, it is possible to identify mutations in the AMELX gene and develop targeted treatment plans. If you or a loved one is experiencing symptoms of Amelogenesis Imperfecta Type 1E, consider talking to a genetic counselor or dental professional about the benefits of genetic testing.