Patent ID: 8497122

Claim:
A method for determining whether a subject suspected of having Niemann-Pick C disease is afflicted with Niemann-Pick C disease, the method comprising: (a) obtaining a body fluid sample from the subject; (b) subjecting the sample to a chromatography-mass spectroscopy analysis to determine the concentration in the sample of at least one oxysterol selected from the group consisting of 7-ketocholesterol and cholestane-3β, 5α, 6β-triol; (c) comparing the concentration of the at least one oxysterol present in the sample to a reference value of the at least one oxysterol obtained from a control population consisting of individuals not afflicted with Niemann-Pick C disease; and (d) diagnosing the subject as afflicted with Niemann-Pick C disease if the concentration of the at least one oxysterol from the subject is greater than the reference value.