|Values are valid only on day of printing.|
Diagnosis of GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis
Not recommended for carrier detection.
Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.
Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome Type B.
A diagnosis of Galactosialidosis must be additionally demonstrated by a deficiency of neuraminidase (NEURF / Neuraminidase, Fibroblasts).
This test is not suitable for carrier detection.
|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.
BGAT: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage