|Values are valid only on day of printing.|
Diagnosis of fucosidosis
Not recommended for carrier detection.
Fucosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent alpha-L-fucosidase 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 fucosidosis.
This test cannot be used to establish carrier status for fucosidosis.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
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.
FUCT: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage