Niemann-Pick disease laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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.

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