α-galactosidase

Fabry disease

Chemical Pathology - Enzyme

For the diagnosis of Fabry disease. Lysosomal α-galactosidase is deficient in leucocytes, plasma, cultured cells and tissues in cases of Fabry disease

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Cultured chorionic villi or

4. Cultured amniotic cells or

5. Chorionic villi

1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

3. Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

5. As soon as practically possible

α-galactosidase A deficiency, Anderson-Fabry disease, Fabry's disease, GLA deficiency

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes