Niemann-Pick disease laboratory findings

Niemann-Pick disease Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Niemann-Pick disease from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Niemann-Pick disease laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
American Roentgen Ray Society Images of Niemann-Pick disease laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Niemann-Pick disease laboratory findings
CDC on Niemann-Pick disease laboratory findings
disease laboratory findings in the news
Blogs on Niemann-Pick disease laboratory findings
Directions to Hospitals Treating Niemann-Pick disease
Risk calculators and risk factors for Niemann-Pick disease laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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 the emergence of genetic testing.