|Values are valid only on day of printing.|
Detection of mucopolysaccharidosis type VII
Diagnostic testing. Not recommended for carrier detection.
Deficiency of the enzyme beta-glucuronidase in fibroblasts is diagnostic for mucopolysaccharidosis VII (MPS VII), or Sly syndrome).
Enzyme analysis of beta-glucuronidase in fibroblasts cannot reliably detect carriers.
|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.
BGLR: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage