Laboratory tests used during diagnosis

To find out if someone has Fabry disease, tests need to be done. These tests could include:

  • Enzyme activity tests

The most important test to confirm if people have Fabry disease is a blood test (sometimes this is called an enzyme activity assay) to see if a person has low levels of alpha-GAL enzyme activity. In people with Fabry disease, the activity levels of this enzyme is typically much lower than people without Fabry disease. Testing can also be done on other sample types such as skin cells called fibroblasts or ‘Dried Blood Spots’ (DBS) where small amounts of blood are dried onto filter paper.

  • Genetic tests

Genetic tests can be performed to diagnose Fabry disease, as well as to find out what defects in the GLA gene are causing the disease. This is called ‘genotyping’ and can give useful genetic information to doctors.
A person with Fabry disease and their family may be offered counselling at this stage so they can learn about how this will impact their lives.

Because Fabry disease can affect different organ systems, doctors may perform other tests and examinations to see how Fabry disease is affecting these different parts of the body.

People with Fabry disease may manifest overt Fabry disease symptoms during the first decades of life but an accurate diagnosis is very important so they can be monitored for symptoms over time. Also a definitive diagnosis can help to find any other family members who may have the disease and need treatment.