pediatrics
Niemann Pick Disease
Diagnosis of Niemann Pick Disease
Prenatal screening White blood cell sphingomyelinase assay Both types are usually suspected by history and examination, most notably hepatosplenomegaly. Diagnosis of Niemann-Pick disease can be confirmed by DNA analysis and/or sphingomyelinase assay on white blood cells and can be made prenatally by using amniocentesis or chorionic villus sampling. DNA tests also can be done to diagnose carriers. (Also see Initial testing .) 