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Diagnosing Fabry disease typically involves a comprehensive evaluation of the patient's symptoms and complaints, followed by a series of diagnostic tests ordered by a physician.
Key diagnostic tests for Fabry disease include:
* Enzyme Activity Assay: This test measures the activity of the alpha-galactosidase A (alpha-GAL) enzyme in the blood. Levels at or below 1% of normal activity are indicative of Fabry disease.
* Genetic Testing: A genetic test, specifically DNA sequencing, may be requested by the physician to identify mutations in the GLA gene, which is responsible for Fabry disease.
How is Fabry Disease Diagnosed?
Key diagnostic tests for Fabry disease include:
* Enzyme Activity Assay: This test measures the activity of the alpha-galactosidase A (alpha-GAL) enzyme in the blood. Levels at or below 1% of normal activity are indicative of Fabry disease.
* Genetic Testing: A genetic test, specifically DNA sequencing, may be requested by the physician to identify mutations in the GLA gene, which is responsible for Fabry disease.