Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP11A1 gene for Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

PreTest Information

Clinical History of Patient who is going for CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic DNA Test gene CYP11A1

Detail Description

CYP11A1 Gene Adrenal Insufficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Adrenal insufficiency is a rare condition that occurs when the adrenal glands do not produce enough hormones. This can be caused by a genetic mutation in the CYP11A1 gene, which is responsible for producing enzymes involved in the production of steroid hormones. In some cases, this mutation can also lead to 46XY sex reversal, a condition where a person with male chromosomes develops female physical characteristics.

Symptoms of Adrenal Insufficiency with CYP11A1 Gene Mutation

The symptoms of adrenal insufficiency with CYP11A1 gene mutation can vary depending on the severity of the condition. Some common symptoms include:

• Weakness and fatigue
• Weight loss
• Loss of appetite
• Nausea and vomiting
• Dizziness and fainting
• Low blood pressure
• Increased skin pigmentation
• Delayed puberty or sexual development

Diagnosing Adrenal Insufficiency with CYP11A1 Gene Mutation

Diagnosing adrenal insufficiency with CYP11A1 gene mutation involves a combination of physical examination, blood tests, and genetic testing. A doctor may perform an ACTH stimulation test, which measures the amount of cortisol produced by the adrenal glands in response to a hormone called ACTH. A low cortisol level may indicate adrenal insufficiency.

Genetic testing can also be used to diagnose adrenal insufficiency with CYP11A1 gene mutation. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and efficient way to identify mutations in the CYP11A1 gene. This type of testing can detect both partial and complete mutations in the gene.

NGS Genetic DNA Test Cost for Adrenal Insufficiency with CYP11A1 Gene Mutation

The cost of NGS genetic DNA testing for adrenal insufficiency with CYP11A1 gene mutation can vary depending on the testing facility and location. In India, the cost of this test typically ranges from INR 20,000 to INR 30,000. However, it is important to note that some insurance plans may cover the cost of genetic testing.

Conclusion

Adrenal insufficiency with CYP11A1 gene mutation is a rare genetic condition that can have serious health consequences if left untreated. If you or a loved one are experiencing symptoms of adrenal insufficiency, it is important to seek medical attention and undergo genetic testing to determine the underlying cause of the condition. NGS genetic DNA testing is an efficient and accurate way to diagnose adrenal insufficiency with CYP11A1 gene mutation, and the cost of this test can be covered by some insurance plans.

At DNA Labs India, we offer NGS genetic DNA testing for adrenal insufficiency with CYP11A1 gene mutation. Contact us today to learn more about our testing services and to schedule an appointment with one of our genetic counselors.