Diagnosis of patients with Fabry disease

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

Yellow ACD (A or B)

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

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.