Genetic Testing for Hypoparathyroidism

Genetic testing looks for alterations (or mutations) in a person’s genome. Certain types of changes might indicate the presence of a genetic disease, including some types of hypoparathyroidism, a rare condition characterized by low levels of parathyroid hormone (PTH).

What is the involvement of genes?

Most cases of hypoparathyroidism are not genetic. However, there are certain types of hypoparathyroidism, such as familial isolated hypoparathyroidism, that are caused by genetic mutations. In these cases, the disease-causing mutations are in genes that directly or indirectly control PTH production or secretion.

Genetic changes also can cause two related conditions (pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism) that have symptoms similar to hypoparathyroidism. Mutations in the gene that provides instructions to make the receptor to which PTH binds, cause pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.

When may I need genetic testing?

If you have a family history of hypoparathyroidism, you can talk to your doctor about getting a genetic test. You also may want to have the test before you have children, to understand your risk of passing the disease to them.

If you or your spouse have familial isolated hypoparathyroidism and you are expecting, you may want a prenatal genetic test for the fetus. This type of genetic test can determine, before birth, whether the fetus inherited the disease.

If you are worried about the risk of your children inheriting the disease, you also may consider preimplantation genetic diagnosis with in vitro fertilization (IVF). In this method, clinicians perform a genetic test on embryos that they create by IVF before doctors implant them in the mother’s uterus.

If you are thinking about whether you should get a genetic test, it’s a good idea to meet with a genetic counselor as well as your primary care physician. They can give you the information you need to decide whether you should be tested, and explain your reproductive options.

What does genetic testing involve?

For adults and children, clinicians can use a small blood sample for genetic testing. Your doctor will arrange a time for you to go to the hospital or clinic for a blood draw. Some hospitals have their own testing laboratory. Most often, however, they send the blood sample to an independent laboratory for testing.

If you are pregnant and want a prenatal genetic test, your doctor will discuss how they will collect a sample from the fetus. There are two main methods: amniocentesis or chorionic villus sampling (CVS). Each has its pros and cons, and your doctor can help you choose the best method for you and your family.

For a preimplantation genetic diagnosis, you will need to discuss genetic testing with the IVF clinic.

It can take a few days to a few weeks for the results of a genetic test to arrive. These will go to your doctor, who will arrange to meet with you to discuss the results and your options moving forward.

Are there risks or drawbacks?

The risks of giving a blood sample for the genetic test are generally very small.  There is a small risk of bleeding and infection at the needle injection site. Some people may feel dizzy or lightheaded during a blood draw.

The process of collecting DNA from the fetus for prenatal genetic testing has some risks for both the mother and baby, though complications are rare.

Last updated: Aug. 28, 2020

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Hypoparathyroidism News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.