|Values are valid only on day of printing.|
Diagnosis of mucopolysaccharidosis I (MPS I), Hurler syndrome (MPS IH), Scheie syndrome (MPS IS), and Hurler-Scheie syndrome (MPS IH/S) in fibroblasts
Diagnostic testing. Not recommended for carrier detection.
Fibroblasts are the preferred specimen since testing for other mucopolysaccharide storage diseases may be necessary.
Deficiency of the alpha-L-iduronidase enzyme in fibroblasts is diagnostic for mucopolysaccharidosis I (MPS I), Hurler, Hurler-Scheie, or Scheie syndrome)
Enzyme analysis of alpha-L-iduronidase 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.
IDST: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage