|Values are valid only on day of printing.|
Screening for a subset of oligosaccharidoses in leukocytes
This is a screening method for several oligosaccharidoses. Additional biochemical or molecular genetic testing is required to confirm abnormal results.
The oligosaccharide screening test analyzes the activity of 4 enzymes in leukocytes via tandem mass spectrometry.
Deficiency or absence of these enzymes is associated with 5 different oligosaccharidoses, including alpha-mannosidosis, beta-mannosidosis, alpha-fucosidosis, GM1 gangliosidosis, and Morquio B.
Patients with mild clinical phenotypes may not be detected by this test.
Enzyme Reaction Assay Followed by Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)