What lab work should be done to test for fabry's disease?

Fabry's disease: Fabry's disease is a rare genetic disorder which has a deficiency of Alpha galactosidase which allows glycolipids to accumulate in blood vessels, tissues, and organs. Because it is inherited in an x-linked fashion, an enzyme assay for Alpha galactosidase in boys and genetic analysis for the GLA gene in girls is performed to establish the diagnosis.

Enyzyme Assay: Fabry disease test, called an enzyme assay, measures the amount of alpha-GAL enzyme activity in the blood. This is an x-linked disease so family history should be consulted. It is mild in females and much more severe in males. Enyzme replacement treatment is available and there clinical trial for treatment.

Alpha-galactosidase: Test for deficient alpha-galactosidase levels in serum, plasma, white blood cells, biopsied tissue, or cultured cells.