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Fabry Disease Enzyme Analysis (alpha-galactosidase-A)

Fabry disease is an X-linked disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal enzyme, α-galactosidase A (GLA). 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.

Test Details

Use

Diagnose patients with Fabry disease.  Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.

Synonyms

Alpha-Galactosidase A Deficiency, Leukocytes; Fabry Disease;

Pregnancy Week

0–13 Weeks
14–21 Weeks
22+ Weeks

Specimen Requirements

Specimen

Whole blood

Volume

(Adult) Two tubes:  10 mL / (Child) One tube:  10 mL

Container

Lavender-top (EDTA) tube

Collection

Refrigerate after collection. Do not allow the sample to freeze.

Special Instructions

Time-sensitive; specimens must be received within 4 days of collection; please collect/ship Monday-Thursday only.

For Enzyme and DNA Sequence Analysis:  Four 10 ml EDTA (lavender-top) tubes.

Causes for Rejection

Quantity not sufficient for analysis; frozen specimen; incorrect specimen collection tube

Additional Information

Limitations

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