Method for the diagnosis of Niemann-Pick disease
AssigneeCentogene AG
InventorsArndt Rolfs, Hermann Mascher
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Abstract
The present invention is related to a method for diagnosing Niemann-Pick disease in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject.
Claims7
A method for generating quantitative data for a subject comprising determining a level of a biomarker in samples from the subject, wherein the samples are samples of blood on a dry blood filter card, wherein the samples were taken at several points in time from the subject, wherein the biomarker is free lyso-sphingomyelin and wherein the subject is suffering from Niemann-Pick disease or suspected of suffering from Niemann-Pick disease.
Dependencies are inferred from the claim text.