Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Niemann-Pick disease laboratory findings
Introduction
Overview
Overview
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.[1]
Laboratory Findings
Laboratory Findings
Diagnostic Algorithm for Niemann-Pick Disease
| Skin biopsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Filipin test | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Highly positive | Moderately positive | Difficult interpretation | Clearly negative | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Reassess clinical features | a priori, not NP-C | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kinetics of LDL-induced cholesteryl ester formation | NPC1 mutation p.P1007A and codon 992 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sequencing opf NPC1 and NPC2 gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: