Oligosaccharidoses Screen, Leukocytes
Screening for a subset of oligosaccharidoses 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. 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.
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
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