Test Catalog

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

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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 genetic 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 tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and forms related to the 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 Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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)