Alpha-galactoside A deficiency

Alphabetical Test listing

Alpha-galactoside A deficiency-14229

Alpha-galactoside A deficiency
Alpha-galactosidase-A deficiency
Alpha-galactosidase-A activity
Alpha galactosidase
Fabry disease
Fabry Disease Enzyme Analysis

Diagnosis of patients with Fabry disease


Due to random X-chromosome inactivation, enzyme results may not reflect Fabry disease carrier status in females

ACD whole blood (A or B)

Yellow ACD (A or B)


10 mL
5 mL

Immediately following collection, mix by inverting 8 - 10 times to prevent clotting


Submit entire specimen, unspun


Yellow ACD (A or B)


Refrigerated - 4 days
Frozen - NO

Specimens must arrive at the testing laboratory within 4 days of collection.

  • Quantity not sufficient for analysis
  • Specimen frozen
  • Specimen not received within four days of collection
  • Incorrect specimen collection tube
  • Gross hemolysis
  • Unable to isolate white blood cells
LabCorp Burlington (402388): R-LC
7 - 14 days

Determination of enzymatic activity with 4-methylumbelliferyl-α-D-galactopyranoside


≥35.6 nmol/hr/mg


Signs and symptoms include angiokeratomas, ocular opacities, painful neuropathy in the extremities, progressive renal insufficiency and cardiac hypertrophy. Untreated, death usually occurs in early to mid-adulthood. Treatment is available for individuals with Fabry disease. Confirmation of the clinical diagnosis in affected hemizygous males can be accomplished by demonstration of deficient α-galactosidase A activity in plasma or leukocytes. However, determination of carrier status in heterozygous females typically cannot be accomplished by testing α-galactosidase A activity. Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.