CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test
Welcome to DNA Labs UAE, where we provide comprehensive genetic testing services. In this blog post, we will discuss the CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test. This test is designed to diagnose individuals with adrenal insufficiency and atypical sexual development.
Test Details
The CYP11A1 gene is responsible for encoding an enzyme called cytochrome P450 side-chain cleavage enzyme. This enzyme plays a crucial role in the production of steroid hormones in the adrenal glands and gonads. Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (AICSR) is a rare genetic disorder characterized by a combination of adrenal insufficiency and atypical sexual development.
Individuals with AICSR have impaired production of steroid hormones in the adrenal glands, leading to adrenal insufficiency. Additionally, affected individuals may have atypical sexual development, such as ambiguous genitalia or complete sex reversal (46XY individuals developing female external genitalia).
NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes simultaneously and detect variations in the DNA sequence. In the case of AICSR, NGS can be used to identify mutations or variations in the CYP11A1 gene that may be responsible for the disorder.
By performing NGS genetic testing for AICSR, healthcare professionals can accurately diagnose the condition, provide appropriate genetic counseling, and offer personalized treatment options for affected individuals and their families.
Test Components and Price
- Test Name: CYP11A1 Gene Adrenal insufficiency congenital with 46XY sex reversal partial or complete Genetic Test
- Price: 4400.0 AED
Sample Condition
The sample required for this test can be either blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery
The report for this test will be delivered within 3 to 4 weeks.
Method
The test utilizes NGS technology.
Test Type and Doctor
This test falls under the categories of Hepatology, Nephrology, and Endocrinology Disorders. It is recommended to consult with a General Physician.
Test Department
This test is conducted in the Genetics department.
Pre Test Information
Before undergoing the CYP11A1 Gene Adrenal insufficiency congenital with 46XY sex reversal partial or complete Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the disorder.
By utilizing the CYP11A1 gene, our genetic testing services can accurately diagnose individuals with adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete. This information is crucial for providing appropriate medical care, genetic counseling, and personalized treatment options for affected individuals and their families.
Test Name | CYP11A1 Gene Adrenal insufficiency congenital with 46XY sex reversal partial or complete Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Hepatology Nephrology Endocrinology Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test 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 |
Test Details | The CYP11A1 gene is responsible for encoding an enzyme called cytochrome P450 side-chain cleavage enzyme, which plays a crucial role in the production of steroid hormones in the adrenal glands and gonads. Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (also known as AICSR) is a rare genetic disorder characterized by a combination of adrenal insufficiency and atypical sexual development. Individuals with AICSR have impaired production of steroid hormones in the adrenal glands, leading to adrenal insufficiency. Additionally, affected individuals may have atypical sexual development, such as ambiguous genitalia or complete sex reversal (46XY individuals developing female external genitalia). NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes simultaneously and detect variations in the DNA sequence. In the case of AICSR, NGS can be used to identify mutations or variations in the CYP11A1 gene that may be responsible for the disorder. By performing NGS genetic testing for AICSR, healthcare professionals can accurately diagnose the condition, provide appropriate genetic counseling, and offer personalized treatment options for affected individuals and their families. |