|Values are valid only on day of printing.|
Detection of fucosidosis
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.