Fabry Disease – Enzyme Analysis

Disease name Fabry Disease
Enzyme Name Alpha-galactosidase
Clinical info Fabry disease is a lysosomal storage disorder in which absent or reduced production of alpha-galactosidase A leads to the systemic accumulation of globotriaoslyceramide. Total absence of enzyme production results in the more severe, classic form of Fabry disease, while reduced production of alpha-galactosidase A typically often involves milder symptoms that appear later in life. Episodic pain, angiokeratosis, and hypohydrosis are frequently seen in patients with Fabry disease as well as corneal clouding and hearing loss. Gastrointestinal issues and breathing problems are common, and complications including cardiac abnormalities, kidney disease, and strokes can be life-threatening. Although Fabry disease is an X-linked disorder that primarily affects males, carrier females may become symptomatic. This condition occurs in approximately 1 in 55,000 males, and the development of enzyme replacement therapy has greatly improved the prognosis for many patients.
Indications This test can be used to confirm a suspected Fabry disease diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests

Alpha-galactosidase analysis is also part of the Dried Blood Spot Lysosomal Panel, the Lysosomal Enzyme Panel, and the Neurological Enzyme Panel.
Molecular analysis of the gene for Fabry disease (GLA) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.

Methodology Quantifies level of alpha-galactosidase via the 4-methylumbelliferyl substrate.
Specimen Requirements

Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles need to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.

Dried Blood Spot Sample Collection and Requirements 

In addition, a dried blood spot or blood drawn in an EDTA tube or can be used for Fabry disease molecular analysis and may be sent for DNA banking.


Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw.

Cultured fibroblasts can be sent overnight at room temperature. 

For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.


In addition, blood drawn in an EDTA tube can be used for Alpha Mannosidase molecular analysis and may be sent for DNA banking.