Method for interpreting tandem mass spectrometry data for clinical diagnosis
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Abstract
A method for interpreting data that is produced after a group of amino acids and acylcarnitines are derivatized from blood spots taken from newborn babies and scanned by a tandem mass spectrometer. Concentration levels of each metabolite, which are directly proportional to the butyl ester fragment after derivatization, are compared to threshold flags for determining a significance of any deviation of the metabolite relative to the flag threshold. The threshold flags are diagnostic limits to the data retrieved from each blood spot. The data includes metabolite concentrations and molar ratios of metabolites with other metabolites. Samples are labeled normal for a disease if the concentration of any of the metabolite concentrations or molar ratio concentration do not deviate from the flag threshold, but, in contrast, the sample must be further evaluated if a value is elevated or deficient to some degree. Thus, as each metabolite fragments at a different mass to charge value (m/z), corresponding data is compared to the respective flag thresholds for determining a next course of action that must be taken to ultimately assist a physician in the diagnosis of a genetic disorder resulting from an elevation or deficiency of the metabolite particular for that disorder.
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Citations
36 Claims
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1-23. -23. (canceled)
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24. A method comprising steps of:
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acquiring mass spectral data from a sample that has been derived from the blood of a patient, wherein said data includes values comprised of an isovaleryl carnitine concentration (C5) and optionally a propionyl carnitine concentration (C3);
comparing said C5 to a C5 flag threshold;
identifying whether or not there is an elevation of C5 above said C5 flag threshold; and
interpreting said sample as being normal for said isovaleryl carnitine, provided there is no said elevation of said C5. - View Dependent Claims (25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36)
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Specification