Diagnosis of Niemann-Pick disease type C
Diagnostic test for Niemann-Pick type C. Not recommended for carrier detection. Cholesterol esterification followed by filipin staining, if positive.
|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.
NIEM: Radiolabeled Lipid Extraction Using Thin Layer Chromatography
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage
Niemann-Pick Type C, Fibro
Acyl-CoA:Cholesterol Acetyltransferase Assay
Cholesterol Esterification Assay
Niemann Pick IIA
Niemann Pick Type IIA
Niemann-Pick Disease (NPD) Type C
Niemann-Pick Type C (NPC)
Niemann-Pick Type IIA
NPC (Niemann-Pick Type C)