Fabry Disease Diagnosis

The primary blood test for the diagnosis of Fabry disease assesses the activity of the alpha-galactosidase A enzyme. Another blood test, which detects the presence of a fatty substance called lyso-Gb3, also can be performed and may indicate the severity of the disease. The blood sample can be used for genetic testing that looks for mutations in the GLA gene and may help confirm Fabry disease.

Men with a mutation in the GLA gene have alpha-galactosidase A enzyme deficiency and can be diagnosed through a blood test that examines how well the enzyme is working. The GLA gene mutation in women may or may not result in low levels of the enzyme, which cannot always be detected with a blood test. A genetic test is required for women and may also be used to confirm the diagnosis in men.

Urine tests, or urinalysis, are a non-invasive and cost-effective tool for diagnosing different pathological aspects of Fabry disease, as well as monitoring disease progression and treatment effectiveness. Changes in urine color and content can be indicative of underlying medical issues, including Fabry.