Clinical method for the genetic screening of newborns using tandem mass spectrometry
First Claim
1. A method of screening newborns comprising:
- scanning samples comprising an internal standard and blood extract from a blood spot obtained from a newborn, said scanning performed using an electrospray tandem mass spectrometer to obtain sample concentration data;
obtaining results of control blood samples scanned using an electrospray tandem mass spectrometer, said control blood samples having at least one marker therein;
comparing concentration data and the results of control blood samples scanned to determine the quality of said sample based upon whether information within said concentration data is recognized as corresponding to said marker.
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Abstract
A method for screening newborns using electrospray tandem mass spectrometry. The method improves the current protocols that use tandem mass spectrometry by assuring accurate and consistent results at the clinical level through enhanced quality controls and quality assurance protocols as applied to the scan profiling and sample preparation of blood spots from newborns. Specific additives are used in precise concentrations of internal standards, employing detailed controls adapted to distinguish twenty metabolites, which are scanned and vigorously compared to known spectra results. Revealing peaks, metabolite concentration, and scan intensities in the quality assurance steps are then compared to a range of thresholds to determine whether or not the sample is contaminated, drug-ridden, diagnosable, or unacceptable. All spectra results and quality assurance flags are organized in spreadsheet form and exported to a database where values are compiled and stored for daily output results and trend analysis. The method provides for high-throughput and quality results, having a consistent predictability for genetically testing newborns efficiently and accurately.
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Citations
32 Claims
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1. A method of screening newborns comprising:
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scanning samples comprising an internal standard and blood extract from a blood spot obtained from a newborn, said scanning performed using an electrospray tandem mass spectrometer to obtain sample concentration data;
obtaining results of control blood samples scanned using an electrospray tandem mass spectrometer, said control blood samples having at least one marker therein;
comparing concentration data and the results of control blood samples scanned to determine the quality of said sample based upon whether information within said concentration data is recognized as corresponding to said marker. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23)
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24. A method of screening newborns comprising:
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receiving a plurality of blood spots;
obtaining an internal standard comprising at least one labeled compound;
preparing a plurality of samples comprising said internal standard, and a blood extract from one of said blood spots;
scanning said plurality of samples using an electrospray tandem mass spectrometer to produce scan results;
scanning a plurality of control blood samples having a marker therein to produce control sample results;
scanning a plurality of standards comprising said at least one labeled compound to produce a plurality of standard results. comparing said control sample results to said plurality of standard results; and
,analyzing said scan results to determine the quality of said scan results. - View Dependent Claims (25, 26, 27, 28, 29, 30, 31, 32)
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Specification