Genetic Testing for Fabry Disease: What to Expect?

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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genetic testing

One way to confirm a diagnosis of Fabry disease is through genetic testing.

What is genetic testing?

Genetic testing is a medical test to determine whether a person has changes in their genes or chromosomes that could be disease causing.

Your doctor will discuss with you whether you need a genetic test. You should talk to a genetic counselor prior to getting a genetic test to make sure you have discussed the risks and benefits of this test.

Genetics of Fabry disease

Mutations in the GLA gene cause Fabry disease. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. This enzyme breaks down a fatty substance called globotriaosylceramide (Gb3 or Gl-3). When this enzyme does not work properly because of mutations, Gb3 builds up in cells and tissues, causing disease symptoms.

What happens during genetic testing?

Your doctor will arrange for you to give a small blood sample at your local clinic or hospital. The clinic or hospital will then send it to a laboratory to check for mutations in the GLA gene.

A laboratory report with test results will be sent to your doctor in a few days to a few weeks.

What happens after genetic testing?

Your doctor and genetic counselor will meet with you to discuss the results of your genetic test, explaining them. Depending on the results, your doctor may want to run additional tests, or discuss treatment options.

Your doctor and genetic counselor may also recommend that some family members be tested. Fabry is a heritable disease, and most cases are inherited by a child from their parents, although rare cases can occur as a result of new or “de novo” mutations appearing for a first time.


Last updated: May 28, 2020


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