Testing is available for Fabry disease
Fabry disease is a progressive and often fatal neuromuscular disorder with symptoms that can mimic other metabolic myopathies. Making the correct diagnosis is an important step in managing your patient’s care. If Fabry disease is suspected, the following tests are available:
α-GAL enzyme assay testing
Low α-GAL enzyme activity can confirm Fabry disease in both males and females. Normal α-GAL enzyme activity in males excludes a diagnosis of Fabry disease, but cannot exclude a diagnosis for females.
GLA gene sequencing
If α-GAL enzyme activity shows normal activity in a female patient, then GLA gene sequencing is required to confirm a diagnosis. GLA gene sequencing can also help identify the specific Fabry disease mutation in both males and females.
Order a test
Many commercial labs offer testing for Fabry disease. Search for a α-GAL enzyme assay test or GLA gene sequencing from your preferred lab’s test menu:
|Tests||Enzyme assay, GLA gene sequencing|
|Keyword search||Fabry, alpha-galactosidase, α-GAL, GLA|
|Typical specimen type||2-10mL whole blood|