|Values are valid only on day of printing.|
Screening for possible oligosaccharidoses
This is a screening method for several oligosaccharidoses. Mild sialidosis is not reliably detected. Mucolipidosis II and III are not distinguishable. Additional biochemical or molecular genetic testing is required to confirm abnormal results.
The oligosaccharide screening test analyses the activity of 6 enzymes in leukocytes via tandem mass spectrometry.
Deficiency or absence of these enzymes is associated with 9 different oligosaccharidosis, including alpha-mannosidosis beta-mannosidosis, alpha-fucosidosis, Schindler disease, GM1 gangliosidosis, Morquio B, sialidosis, galactosialidosis, and mucolipidoses.
Patients with mild sialidosis or older 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)