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Table 1 Reliability and limitations of diagnostic methods in NPC

From: Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

Diagnostic method Sensitivity Specificity Comment
Clinical evaluation Low-to-moderate Usually low Depends on the form and stage of disease and experience of clinician
Histology, histochemistry and electron microscopy of appropriate tissues (bone marrow smear, spleen, liver, brain) Not exactly defined, in particular tissue probably moderate, at autopsy moderate-to-high High Must be performed by experienced histopathologist*
Filipin staining test (alone or in combination with LDL-cholesterol assay) High (but not absolute) High (but not absolute) Must be performed by experienced laboratory. Less reliable in persons with “variant biochemical subtype”. Similar results in some other IEM**.
Molecular genetic analysis High (but not absolute) High (but not absolute) Only one mutation identified in some patients; difficult decision regarding pathogenicity of novel private mutations in NPC genes
  1. *See references [12]-[15]; **inborn errors of metabolism.