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CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CYP11A1 gene plays a crucial role in the production of steroid hormones in the adrenal gland, including the synthesis of cortisol, aldosterone, and sex steroids. Mutations in the CYP11A1 gene can lead to adrenal insufficiency, a condition characterized by the insufficient production of these vital hormones. This can have profound effects on the body, including electrolyte imbalances, hypotension, and fatigue. Additionally, mutations in this gene can cause 46XY sex reversal, where individuals genetically identified as male (46XY) exhibit female or ambiguous genitalia due to disrupted sex steroid synthesis. This condition can be partial or complete, depending on the extent of the mutation’s impact on hormone production.

To diagnose conditions related to the CYP11A1 gene mutation, including congenital adrenal insufficiency and 46XY sex reversal, genetic testing is available at DNA Labs UAE. This specialized test aims to identify mutations in the CYP11A1 gene that might be responsible for these conditions. Understanding the genetic basis of these disorders can aid in the development of personalized treatment plans, including hormone replacement therapy and other interventions to manage symptoms and improve the quality of life for affected individuals.

The cost of the genetic test for the CYP11A1 gene at DNA Labs UAE is 4400 AED. This comprehensive test is a critical tool for individuals presenting symptoms of adrenal insufficiency or ambiguous genitalia, providing them and their healthcare providers with essential information for accurate diagnosis and effective management of these complex conditions.

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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.

SKU: TEST-3559 Category:

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