Where Can I Get Genetic Testing?

By: Ian Murnaghan BSc (hons), MSc - Updated: 7 Jul 2020 | *Discuss

 

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Q.

I`ve had several 24 hour urines that say I`ve CAH (Congenital Adrenal Hyperplasia), but the consultant has ignored this fact.

Where can I get genetic testing?

A.

People with CAH do not have the enzyme required for the adrenal gland to manufacture a number of important hormones. Without these hormones, a person's body will make more male sex hormones known as androgens. As a result, male characteristics occur earlier and are more prominent in men and women.

I'm glad that you sought out a doctor's diagnosis of your symptoms, which appear to have led to your urine tests. When you state that the tests say you have CAH – yet the consultant ignores this fact – I'm not sure if you are self-diagnosing based on the results.

There are a number of different tests for blood and urine, which will measure the levels of hormones in the adrenal glands. These include cortisol, aldosterone and androgens. A diagnosis of CAH is typically made after a physical exam, symptom evaluation and also when these tests are abnormal. Genetic testing is mostly used if there are questionable results from other forms of testing. Instead, the main use for genetic testing is for family planning purposes.

If you feel that you have CAH and your consultant has not provided this diagnosis, then you should seek a second opinion. Treatment for CAH usually involves medication that must be taken for life.

In terms of genetic testing, if you want this testing for family planning, you should be commended for taking a proactive step to obtain this kind of testing. Some forms of CAH can be severe and can cause an adrenal crisis in a newborn, which occurs from salt loss. For this reason, if you do indeed have CAH – particularly if you have a family history of the disorder as well – you should speak to a doctor about genetic counselling.

If you do become pregnant and have a history of CAH, a diagnosis can generally be made in the second trimester. This test is performed through the measurement of hormones in the amniotic fluid. Newborns can also be screened and this testing is routine is some areas of the world.

To summarise, how you approach genetic testing will depend on the results of your initial urine tests and a qualified doctor who can interpret these and determine if you actually need genetic testing. Any wish to become pregnant could be affected by the diagnosis, so it's a good idea to consider genetic counselling.

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