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

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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.

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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

If the results indicate that the patient's cultured fibroblasts esterify cholesterol at a level which is <10% of normal cultured fibroblasts and when filipin staining shows excessive storage of free cholesterol, it will be stated that the patient is positive for Niemann-Pick type C disease. All samples will be stained by filipin to see if a milder biochemical phenotype is the likely cause of the Niemann-Pick disease-like clinical picture.

Interpretation Provides information to assist in interpretation of the test results

Values expected in Niemann-Pick disease type C are <10% of that found in normal cultured fibroblasts.


Values between 10% and 80% of normal will have to be judged on other diagnostic criteria.


All values will be followed up by filipin staining for cholesterol.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Biochemical testing is unreliable for Niemann-Pick disease type C carrier detection.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Online Mendelian Inheritance in Man (OMIM): entry 257220

2. Patterson M: Niemann-Pick Disease type C. Available from:; Reviewed July 18, 2013

3. Enns GM, Steiner RD, Cowan TM: Lysosomal Disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. New York, McGraw-Hill Medical Division, 2009, pp 740

4. Bauer P, Balding DJ, Klunemann HH, et al: Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Gen 2013;22(21):4349-4356

5. Patterson MC, Mengel E, Wijburg FA, et al: Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 2013;8:12

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