Diagnosis of alpha-mannosidosis
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Diagnostic testing. Not available for carrier detection.
Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase 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 alpha-mannosidosis, determining enzymatic activity is the next step of the diagnostic workup.
This test cannot be used to establish carrier status for alpha-mannosidosis.
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