Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH)

 

Mapmygenome offers genetic testing for Congenital Adrenal Hyperplasia (CAH), a group of genetic disorders affecting the adrenal glands, which are responsible for producing hormones like cortisol and aldosterone. Here’s a comprehensive overview of what such a panel typically involves:

Congenital Adrenal Hyperplasia (CAH) Panel Overview:

  1. Purpose:

    • Diagnosis: The panel helps confirm a diagnosis of CAH by identifying mutations in genes associated with the disorder. CAH can present in various forms and with different severity, so precise genetic testing can aid in diagnosis and management.
    • Carrier Screening: For individuals planning a family or who have a family history of CAH, the test can determine if they are carriers of the genetic mutations.

  2. Genes Tested:

    • The panel typically focuses on the CYP21A2 gene, which is most commonly associated with CAH due to 21-hydroxylase deficiency. This deficiency impairs the production of cortisol and aldosterone.
    • Other related genes may be included depending on the specific panel, especially if it covers less common forms or variations of CAH. These can include:
      • CYP11B1: Associated with CAH due to 11-beta-hydroxylase deficiency.
      • CYP17A1: Linked to CAH due to 17-alpha-hydroxylase deficiency.

  3. Test Procedure:

    • Sample Collection: Typically involves a blood or saliva sample.
    • Genetic Analysis: The sample is analyzed for mutations in the relevant genes. This involves sequencing or targeted mutation analysis to identify genetic changes.

  4. Interpreting Results:

    • Positive Result: Indicates the presence of mutations associated with CAH. This result confirms the diagnosis and can help guide treatment options.
    • Negative Result: Indicates no mutations were found in the tested genes. This result does not rule out CAH, especially if symptoms are present, as there may be other less common genetic causes.
    • Variants of Unknown Significance: Sometimes the test may identify genetic changes that are not yet fully understood. Genetic counseling can help interpret these results.

  5. Genetic Counseling:

    • Pre-Test Counseling: Helps individuals understand the potential outcomes of the test and what the results might imply for their health and family.
    • Post-Test Counseling: Provides guidance on interpreting results, discussing treatment options, and understanding the implications for family members.

  6. Next Steps:

    • Consult a Genetic Counselor or Healthcare Provider: Before testing, it’s advisable to discuss your symptoms, family history, and the potential benefits of genetic testing.
    • Testing: Follow the procedure for sample collection and submission as provided by Mapmygenome.
    • Follow-Up: Review results with a healthcare provider or genetic counselor to discuss management strategies and any necessary treatments.

Mapmygenome’s Services:

For specific details about the CAH panel, including which genes are tested, the exact procedure, and any updates to their offerings, it’s best to contact Mapmygenome directly or visit their official website. They can provide the most accurate and current information about their genetic testing services for Congenital Adrenal Hyperplasia.

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