Fabry disease

Diagnosis and Testing

What tests are performed to diagnose Fabry disease?

Fabry disease can be diagnosed through a simple blood or saliva test. In males, the best way to start testing is doing alpha-galactosidase A (alpha-gal) enzyme testing on blood. If low or missing alpha-gal levels are found, the next step is to identify a disease causing mutation or change in the GLA gene by gene sequencing analysis to confirm a diagnosis of Fabry disease. Many women with Fabry disease can have normal levels of alpha-Galactosidase A enzyme so it is important for women to have the GLA gene sequencing to establish a diagnosis.

If an individual with health problems suggestive of Fabry disease and/or has low alpha gal enzyme levels with normal GLA gene sequencing results, then there is an additional test called deletion/duplication testing that can pick up missing or added information in the GLA gene that can be missed in normal sequencing genetic testing.

If there is a known GLA gene mutation in the family, a person at risk for Fabry disease in that family can have testing for that specific GLA gene mutation. A list of laboratories which perform testing for the GLA gene can be found in the NCBI Genetic Testing Registry). If testing is being delayed by lack of insurance or large out of pocket payments, there are free and reduced cost testing options in Fabry disease. Contact the Fabry support groups, Fabry Support and Information Group (FSIG) and the National Fabry Disease Foundation (NFDF), or a center specializing in Fabry disease care to learn more about these options. In order to find a Fabry disease specialist or more information on Fabry disease treatment, please refer to the National Fabry Disease Foundation online resource.

Resources for Fabry disease outside the United States may be available by speaking to your clinician or patient advocacy group.

Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.

National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.

National Fabry Disease Foundation. (n.d.). Retrieved from http://www.fabrydisease.org.

NCBI - Genetic Testing Registry - Fabry disease. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0002986/.

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