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.
Diagnose patients with Fabry disease. Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.
Alpha-Galactosidase A Deficiency, Leukocytes; Fabry Disease;
(Adult) Two tubes: 10 mL / (Child) One tube: 10 mL
Lavender-top (EDTA) tube
Refrigerate after collection. Do not allow the sample to freeze.
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