Congenital adrenal hyperplasia, due to 17-alpha-hydroxylase deficiency

Diagnosis and Testing

How do I get tested for Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase?

In most cases an endocrinologist will check hormone levels to determine if a person has congenital adrenal hyperplasia (CAH). If CAH appears likely, then the doctor will often order a DNA test that will test for a mutation in the CPY17A1 gene. This test will look for deletions, duplications, or harmful changes within the gene. The doctor will collect a DNA sample through your blood or saliva and send it to a lab where it can be tested. A genetic counselor near you can discuss how to get genetic testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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