OLIWB - Overview: Oligosaccharidoses Screen, Leukocytes

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Test ID: OLIWB    
Oligosaccharidoses Screen, Leukocytes

Useful For Suggests clinical disorders or settings where the test may be helpful

Screening for possible oligosaccharidosis in leukocytes

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

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.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Enzyme Reaction Assay Followed by Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Oligosaccharidoses Screen, WBC

Aliases Lists additional common names for a test, as an aid in searching

Alpha-N-Acetylgalactosaminidase Deficiency
GM1 Gangliosidosis
Morquio B
I-Cell Disease
Mucolipidosis II
Mucolipidosis III
Pseudo-Hurler Polydystrophy
Schindler Disease