test (α-D-galactosidase)

Genetic test Export to PDF

Full name:	test (α-D-galactosidase)
Description:	α-D-galactosidase is involved in the breakdown of trihexosylceramides and digalactosylceramides and is deficient in Fabry disease.
Test type:	Clinical
Test specialty:	Biochemical Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA, Skin fibroblasts
Method category:	Analyte/Enzyme assay
Method technique:	Fluorometry
Laboratory:	Centre de Génétique Humaine - CHU Sart-Tilman
Turnaround time (maximum):	3 weeks in case of blood or 3 months in case of cultured skin fibroblasts
Document(s):	Test request form Enzyme diagnostics_0.pdf1.83 MB
Created:	13 Nov 2023 - 12:27
Changed:	13 Nov 2023 - 12:36

Related Laboratories

• Centre de Génétique Humaine - CHU Sart-Tilman