Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP11B1 gene for Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency

PreTest Information

Clinical History of Patient who is going for CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency

Detail Description

CYP11B1 Gene Adrenal Hyperplasia Due to Steroid 11-Beta-Hydroxylase Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency is a genetic disorder that affects the adrenal glands, which are responsible for producing hormones that regulate various bodily functions. This disorder is caused by mutations in the CYP11B1 gene, which provides instructions for making an enzyme that plays a crucial role in the production of cortisol and aldosterone.

People with this condition have a deficiency in the enzyme, which results in a buildup of certain hormones in the body. This can cause a range of symptoms, including:

• High blood pressure
• Low potassium levels
• Irregular menstrual periods in women
• Early puberty in boys
• Enlarged adrenal glands

The symptoms of this condition can vary widely, and some people may not experience any symptoms at all. However, if left untreated, adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency can lead to serious health problems, including heart disease, kidney failure, and stroke.

Diagnosis

Diagnosis of this condition typically involves a physical exam, blood tests to measure hormone levels, and genetic testing to identify mutations in the CYP11B1 gene. Genetic testing can be particularly useful in identifying people who are carriers of the gene mutation but do not have any symptoms.

If you or a loved one is experiencing symptoms of adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency, it is important to seek medical attention right away. Early diagnosis and treatment can help prevent serious health problems and improve quality of life.

NGS Genetic DNA Test Cost INR: 20000

DNA Labs India offers a comprehensive NGS genetic DNA test for adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. This test is designed to identify mutations in the CYP11B1 gene and provide a detailed analysis of an individual's risk of developing this condition.

The cost of this test is INR 20000, and results are typically available within 4-6 weeks. This test is covered by most insurance plans, and financing options are available for those who need assistance with payment.

Conclusion

Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency is a serious genetic disorder that can have a significant impact on a person's health and quality of life. Early diagnosis and treatment are essential for managing symptoms and preventing serious complications.

If you or a loved one is experiencing symptoms of this condition, it is important to seek medical attention right away. With the help of DNA Labs India's NGS genetic DNA test, you can identify your risk of developing this condition and take steps to manage your health and prevent serious complications.

Contact DNA Labs India today to learn more about our genetic testing services and how we can help you manage your health.