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
Not suitable for carrier detection.
Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent acid alpha-mannosidase enzyme activity.
Determining enzyme activity is the next step of the diagnostic workup for an individual clinically suspicious for an oligosaccharidosis and a positive screening (OLIWB / (Oligosaccharidoses Screen, Leukocytes or OLITC / Oligosaccharidoses Screen, Fibroblasts) result suggestive of alpha-mannosidosis.
This test cannot be used to establish carrier status for alpha-mannosidosis.
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.
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
MANT: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage
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