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Diagnostic Services

Genetics Lab


Fabry Disease Enzyme Assay

Fabry disease is an X-linked lipid storage disease caused by a deficiency of alpha-galactosidase, with onset in childhood or adolescence. Features of the disorder can include peripheral neuropathies, decreased sweating, angiokeratomas, renal disease, characteristic eye changes, cerebrovascular involvement and GI disturbances to name a few. Many carrier females can be symptomatic. In males, Fabry disease can be diagnosed by measuring the activity of alpha-galactosidase in leukocytes or cultured fibroblasts. Enzyme assay is not a reliable method of diagnosing females and further testing using DNA may be necessary.

Test Name: Fabry (alpha-galactosidase)
Test Code:
Test Description:
Quantitative measurement of alpha-galactosidase activity in white blood cells or cultured skin fibroblasts.
alpha-galactosidase; alpha-galactosidase A; Anderson-Fabry Disease
The test is used for males and females with some or all of the following:
-periodic crises of severe pain in the extremities
-characteristic corneal and lenticular opacities
-left ventricular hypertrophy
-renal insufficiency of unknown etiology
Related Tests:
Clinical Links: Fabry Disease GeneReview
Performed weekly
Turnaround Time:
7-10 days
Fluorometric enzyme assay
Reference Range:
An interpretive report is included with each result
Consent Form:
Sample Requirements: Type
Whole blood: 5-10 ml heparin (green) or ACD (yellow).
Fibroblasts: 2 confluent T-25 flasks.
Skin biopsy: 2-4mm skin punch biopsy.

Do NOT use gel separator tubes. Do not spin! Keep at room temperature.

Transport Mon - Thurs at room temperature via overnight shipping. Whole blood sample must be received within 24 hrs of collection. Ship fibroblasts/biopsy in appropriate media.
Samples Received:
Mon-Fri 8:00 am - 5:00 pm PST
Special Considerations:
Female carriers may have normal activity. DNA testing may be necessary to confirm diagnosis in females.
If fresh skin biopsy is submitted, Fibroblast Cell Culture (CH-SKIN) must be ordered separately. Please call to discuss.
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions