Niemann-Pick disease laboratory findings: Difference between revisions
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{{Niemann-Pick disease}} | {{Niemann-Pick disease}} | ||
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==Overview== | ==Overview== | ||
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==Laboratory Findings== | ==Laboratory Findings== | ||
===Diagnostic Algorithm for Niemann-Pick Disease=== | ===Diagnostic Algorithm for Niemann-Pick Disease=== | ||
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Latest revision as of 16:33, 25 July 2016
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Niemann-Pick disease Microchapters |
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Niemann-Pick disease laboratory findings On the Web |
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Risk calculators and risk factors for Niemann-Pick disease laboratory findings |
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.[1]
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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||