|Values are valid only on day of printing.|
Diagnosis of Krabbe disease
Diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.
This test is not intended for carrier detection
Krabbe disease (globoid cell leukodystrophy) is typically a neurodegenerative disease of infancy, but later onset cases have also been diagnosed.
Krabbe disease is caused by reduced or absent galactocerebrosidase in leukocytes or fibroblasts (CBGT / Galactocerebrosidase, Fibroblasts).
A Krabbe disease phenotype can also be caused by the absence of a physiologically active sphingolipid activator protein, saposin A (SAP-A).
This test is not recommended for carrier screening.
|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.
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage