Test ID: NIEM
Niemann-Pick Type C Detection, Fibroblasts
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
9313
NY State Approved
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Useful For
Suggests clinical disorders or settings where the test may be helpful
Detection of a unique form of type C Niemann-Pick disease
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.
Additional Tests
Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | Yes |
| CRYOB | Cryopreserve for Biochem Studies | No | Yes |
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/9313: Radiolabeled Lipid Extraction Using Thin Layer Chromatography
CRYOB/88832: Fibroblast Subculture Followed by Cryopreservation and Storage
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)
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)


