Test Catalog

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

Method Description Describes how the test is performed and provides a method-specific reference

The formation of (3)H-cholesterol oleate is measured against cells that are fed only (3)H-oleic acid without low-density lipoprotein. The formed (3)H-cholesterol oleate is separated from (3)H-oleic acid and its other esterified forms by thin-layer chromatography (TLC). The areas on the TLC plates corresponding to the cholesterol oleate markers are then scraped and counted on a liquid scintillation counter. Lowry proteins are done on the cell pellet to normalize the assay roughly to cell numbers. Filipin staining for cholesterol is performed on all specimens with low values.(Kruth HS, Comly ME, Butler JD, et al: Type C Niemann-Pick disease: abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. J Biol Chem 1986;261:16769-16774; Pentchev PG, Kruth HS, Comley ME, et al: Type C Niemann-Pick disease: a parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. J Biol Chem 1986;261:16775-16780; Cowan T, Pasquali M: Laboratory Investigations of Inborn Errors of Metabolism. In Pediatric Endocrinology and Inborn Errors of Metabolism. Second Edition. Edited by K Sarafoglou, GF Hoffman, KS Roth. 2017 pp 1139-1158)

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.


Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.

70-80 days depending on rapidity of growth

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Clinic Laboratories until the release of the test result

80 days

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

3 years - Check with the lab for availability

Performing Laboratory Location Indicates the location of the laboratory that performs the test