1. Can I have CAH if no CYP21A2 gene mutations were detected during genetic testing?
Yes. Testing detects the most common mutations but will not detect those that are rare. If a specific mutation has been identified in your family members, then you should be tested for that mutation. Also, this test only detects CAH due to 21-hydroxylase deficiency. Other, less common types of CAH will not have mutations in the CYP21A2 gene.
3. If I have CAH, or my child does, should my family members be tested?
You should talk to your doctor or a genetic counselor about this. Since CAH is caused by an autosomal recessive genetic mutation, both parents must have an altered gene in order for a child to have the condition. If both parents are carriers then each child has a 25% chance of having the condition.
4. Can 17-hydroxyprogesterone be tested at my doctor's office?
No, this testing requires specialized equipment and is not offered by every laboratory. It may be necessary to send your blood sample to a reference laboratory and it may be several days to weeks for results to be available.
This article was last reviewed on September 17, 2013. | This article was last modified on May 7, 2014.
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