Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type.

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Figure Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Revised Niemann-Pick disease type C (NP-C) diagnostic algorithm for the use of biomarkers and genetic testing Individual steps can be omitted if not locally available. aAt-risk patient populations are defined in table 1. bNegative biomarkers may be suggestive that the diagnosis is not NP-C. cSingle-gene sequencing (exons or known mutations) or other. d+1 Variant of unknown significance optional. eCovers deep intronic sequencing and if possible gene transcription regulatory regions. fTwo different alleles. gBiomarker(s) profiling (if not initially conducted), or extended biomarkers profiling (in addition to those already conducted). Despite comprehensive investigations, it may not be possible to definitively confirm a diagnosis of NP-C in a few patients. In such cases, a thorough reappraisal of longitudinal clinical data, more in-depth genomic analyses (e.g., whole exome and whole genome sequencing), and cell biological assessments could be considered. cDNA = complementary DNA; MLPA = multiplex ligation-dependent probe amplification. Marc C. Patterson et al. Neurol Clin Pract 2017;7:499-511 Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.