NIEM - Overview: Niemann-Pick Type C Detection, Fibroblasts

Test Catalog

Test Name

Test ID: NIEM    
Niemann-Pick Type C Detection, Fibroblasts

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Niemann-Pick disease type C

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Diagnostic test for Niemann-Pick type C. Not recommended for carrier detection. Cholesterol esterification followed by filipin staining, if positive.


This test is not recommended for prenatal testing.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

NIEM: Radiolabeled Lipid Extraction Using Thin Layer Chromatography

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Niemann-Pick Type C, Fibro

Aliases Lists additional common names for a test, as an aid in searching

Acyl-CoA:Cholesterol Acetyltransferase Assay
Cholesterol Esterification Assay
Filipin Staining
Niemann Pick IIA
Niemann Pick Type IIA
Niemann-Pick Disease (NPD) Type C
Niemann-Pick IIA
Niemann-Pick Type C (NPC)
Niemann-Pick Type IIA
NPC (Niemann-Pick Type C)