Short Description

NGS genetic DNA test detecets for variant and mutation detection in ESR1 gene for Estrogen resistance

PreTest Information

Clinical History of Patient who is going for ESR1 Gene Estrogen resistance NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESR1 Gene Estrogen resistance NGS Genetic DNA Test gene ESR1

Detail Description

ESR1 Gene Estrogen Resistance NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Estrogen is a hormone that plays a crucial role in the development and functioning of the female reproductive system. It is also involved in the growth and maintenance of bones and plays a key role in regulating cholesterol levels in the body. However, some people may experience estrogen resistance due to a genetic mutation in the ESR1 gene. This mutation can lead to a number of health problems, including infertility and osteoporosis.

What is the ESR1 Gene?

The ESR1 gene is responsible for encoding the estrogen receptor alpha (ERα), which is a protein that binds to estrogen and helps regulate its effects on the body. The ERα is primarily expressed in the reproductive tissues, but it is also found in other tissues, such as bone and liver.

What is Estrogen Resistance?

Estrogen resistance is a condition in which the body is unable to respond to the effects of estrogen properly. This can occur due to a variety of reasons, including genetic mutations in the ESR1 gene. When the ESR1 gene is mutated, the ERα protein is altered, and it may not be able to bind to estrogen effectively. As a result, the body does not respond to estrogen as it should, leading to a range of health problems.

Symptoms of Estrogen Resistance

The symptoms of estrogen resistance can vary depending on the severity of the mutation and the age of the affected individual. Some of the common symptoms include:

• Delayed puberty
• Irregular periods or absence of periods
• Infertility
• Early onset of menopause
• Osteoporosis
• Increased risk of cardiovascular disease

Diagnosis of Estrogen Resistance

Estrogen resistance can be diagnosed through a genetic test, which looks for mutations in the ESR1 gene. The most common type of genetic test used to diagnose estrogen resistance is Next-Generation Sequencing (NGS). This test involves sequencing the entire DNA sequence of the ESR1 gene and looking for any mutations that may be present.

ESR1 Gene Estrogen Resistance NGS Genetic DNA Test Cost

The cost of the ESR1 Gene Estrogen Resistance NGS Genetic DNA Test is INR 20,000. This test is available at DNA Labs India, a leading genetic testing laboratory in India. The test is non-invasive and involves taking a small blood sample from the patient. The results of the test can help identify the presence of any mutations in the ESR1 gene, which can help in the diagnosis and treatment of estrogen resistance.

Conclusion

Estrogen resistance is a condition that can lead to a range of health problems, including infertility and osteoporosis. It is caused by a genetic mutation in the ESR1 gene, which can be diagnosed through a genetic test such as NGS. The ESR1 Gene Estrogen Resistance NGS Genetic DNA Test is available at DNA Labs India at a cost of INR 20,000. If you are experiencing any symptoms of estrogen resistance, it is important to get tested to ensure that you receive the proper diagnosis and treatment.