Diagnosis of Niemann-Pick Disease involves a combination of clinical evaluation, genetic testing, and histological examination. Histologically, tissue biopsies from affected organs are stained and examined under the microscope to identify foam cells. Special staining techniques, such as Nile red or filipin staining, can be used to visualize accumulated lipids. Additionally, enzyme assays may be conducted to measure the activity of acid sphingomyelinase or other relevant enzymes.
