Detection of fucosidosis
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Not available for carrier detection.
Fucosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent alpha-L-fucosidase enzyme activity.
For an individual clinically suspicious for an oligosaccharidosis and with a positive screening result (OLIWB / Oligosaccharidoses Screen, Leukocytes or OLITC / Oligosaccharidoses Screen, Fibroblasts) suggestive of fucosidosis, determining enzymatic activity is the next step of the diagnostic workup.
This test cannot be used to establish carrier status for fucosidosis.
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
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