Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP11B2 gene for Hypoaldosteronism congenital due to CMO I deficiency

PreTest Information

Clinical History of Patient who is going for CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypoaldosteronism congenital due to CMO I deficiency

Detail Description

CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency NGS Genetic DNA Test

CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency is a rare genetic disorder that affects the adrenal glands. It is a type of aldosterone synthase deficiency that leads to a deficiency of aldosterone, a hormone that regulates the balance of salt and water in the body. This deficiency can cause a range of symptoms, including dehydration, low blood pressure, and electrolyte imbalances.

Symptoms of CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency

The symptoms of CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency can vary widely from person to person. Some people may have mild symptoms, while others may have more severe symptoms. Common symptoms include:

• Dehydration
• Low blood pressure
• Electrolyte imbalances
• Weakness and fatigue
• Difficulty gaining weight
• Poor feeding and growth in infants
• Frequent urination
• Increased thirst
• Abnormal heart rhythms
• Low blood sugar

Diagnosis of CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency

CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most reliable and accurate method for diagnosing this condition. This test can detect mutations in the CYP11B2 gene that are associated with the condition. Other diagnostic tests may also be performed, including blood tests, urine tests, and imaging studies.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA testing for CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency can vary depending on the laboratory and the location. In India, the cost of this test is typically around INR 20,000.

Treatment of CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency

There is no cure for CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency. Treatment focuses on managing the symptoms of the condition. This may include medications to replace aldosterone, such as fludrocortisone. In addition, people with this condition may need to drink more fluids and consume more salt to maintain a healthy balance of electrolytes in the body.

Conclusion

CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency is a rare genetic disorder that can cause a range of symptoms related to electrolyte imbalances. NGS genetic DNA testing is the most reliable and accurate way to diagnose this condition, and it typically costs around INR 20,000 in India. While there is no cure for this condition, treatments are available to manage the symptoms and maintain a healthy balance of electrolytes in the body.

If you or someone you know is experiencing symptoms of CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency, it is important to speak with a healthcare provider for proper diagnosis and treatment.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.