Methods and systems for determining autism spectrum disorder risk
AssigneeSynapDx Corporation
InventorsUte Geigenmuller, Doris Damian, Maciej Pacula, Mark A. DePristo
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Abstract
In certain embodiments, the invention stems from the discovery that analysis of population distribution curves of metabolite levels in blood can be used to facilitate predicting risk of autism spectrum disorder (ASD) and/or to differentiate between ASD and non-ASD developmental delay (DD) in a subject. In certain aspects, information from assessment of the presence, absence, and/or direction (upper or lower) of a tail effect in a metabolite distribution curve is utilized to predict risk of ASD and/or to differentiate between ASD and DD.
Claims5
A method comprising measuring by mass spectrometry the levels of a plurality of metabolites in a blood sample obtained from a human subject, wherein the plurality of metabolites comprises hydroxychlorothalonil and at least one metabolite selected from the group consisting of xanthine, gamma-CEHC, 5-hydroxyindoleacetate (5-HIAA), indoleacetate, p-cresol sulfate, 1,5-anhydroglucitol (1,5-AG), 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (CMPF), 3-indoxyl sulfate, 4-ethylphenyl sulfate, hydroxyisovaleroylcarnitine (C5), isovalerylglycine, lactate, N1-Methyl-2-pyridone-5-carboxamide, pantothenate (Vitamin B5), phenylacetylglutamine, pipecolate, 3-hydroxyhippurate.
Dependencies are inferred from the claim text.