The skin manifestations can offer a clue to the diagnosis of Fabry disease. However, the diagnosis is generally made from a blood test which measures blood AGA enzyme levels. A urine sample may also be required.
Skin biopsies show distinctive findings but are not usually required. Once the diagnosis is confirmed, multiple other tests may be required to determine the type and extent of internal organ involvement.
Genetic testing can be performed on the affected person and other female relatives. Prenatal diagnosis is available for subsequent pregnancies. This tests the foetus to see if it has the same genetic mutation.