Abstract: Methods are provided for detecting the amount of one or more HRT panel analytes (i.e., estrone (E1), estrone sulfate (E1s), 17?-estradiol (E2a), 17?-estradiol (E2b), estradiol sulfate (E2s), estriol (E3), equilin (EQ), 17?-dihydroequilin (EQa), 17?-dihydroequilin (EQb), Equilenin (EN), 17?-dihydroequilenin (ENa), 17?-dihydroequilenin (ENb), and ?8,9-dehydroestrone (dE1)) in a sample by mass spectrometry. The methods generally involve ionizing one or more HRT panel analytes in a sample and quantifying the generated ions to determine the amount of one or more HRT panel analytes in the sample. In methods where amounts of multiple HRT panel analytes are detected, the amounts of multiple analytes are detected in the same sample injection.

Abstract: Provided are methods for determining the amount of tamoxifen and its metabolites in a sample by mass spectrometry. In some aspects, the methods provided herein determine the amount of norendoxifen. In some aspects, the methods provided herein determine the amount of norendoxifen and tamoxifen. In some aspects, the methods provided herein determine the amount of norendoxifen and other tamoxifen metabolites. In some aspects, the methods provided herein determine the amount of tamoxifen, norendoxifen, and other tamoxifen metabolites.

Abstract: The invention relates to the administration of prescription drug formulary information. A list of drugs that a particular prescription drug plan will pay for in whole or in part is called a formulary. The invention involves the use of information and customizable rules associated with formularies, combined with information from patient medical records, to generate custom, dynamic formularies applicable to specific patients, groups of patients, or both. Depending on the choice of rules and the other information, this may help payers control prescription drug costs by encouraging the use of less-expensive drugs when medically appropriate, but without impairing the freedom of prescribers to prescribe specific drugs according to their professional judgments. Some embodiments may also be adapted to generate and store data about the use and functioning of the embodiments or aspects of them and to generate reports containing some or all such data in response to queries.

Abstract: Systems and methods are provided for delivering information as alerts. Alerts may be sent to one or more destinations at one or more times, with possible destinations including, e.g., one or more dedicated software clients, portable wireless devices, and/or email accounts, among many other possibilities. The sender may receive confirmation of, and/or may keep persistent records of, among several possibilities, transmission of one or more of the alerts, receipt of one or more of the alerts by devices at their respective destinations, and/or presentation of the alert to the intended recipient. According to an embodiment of the invention, an alert may be used to delivery medical information, which may include an urgent result of a medical test that has been performed on a patient.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

Abstract: The invention provides compositions and methods for diagnosing a patient as having a myeloproliferative disease by identifying mutations in the MPL gene or gene products.

Abstract: Methods are described for measuring the amount of C peptide in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying C peptide in a sample utilizing on-line extraction methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques.

Abstract: Methods are described for determining the amount of insulin in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying insulin in a biological sample utilizing purification methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques.

Abstract: Embodiments of the invention include systems, apparatus, and methods for detecting copy number variation (CNV) in the genomes of one or more patients. Samples of DNA may be taken from several patients, and then sections of the patients' DNA may be sequenced, e.g., through a process that may include, for each patient, one or more of: purifying, concentrating, fragmenting, labeling, filtering, and amplifying that patient's DNA. Fragments from several patients may be pooled, and the fragments in the pool may be sequenced. The sequencing data is then subjected to analysis, which includes several normalization steps. The normalized data are then examined to identify CNV, which is reported.

Abstract: Methods and user interfaces are provided for the display of data comprising series of data over time, with particular application to medical laboratory results and prescriptions of medication. A user may view multiple results simultaneously in a single display, with the abilities to zoom the time scale in and out and to select the time period for which results are displayed. Multiple displayed items of data may be selected for simultaneous display along a common time axis in a zoomable graph, facilitating interpretation of relationships between and/or among data items.

Abstract: The invention relates to the detection of non-metabolized vitamin D. In a particular aspect, the invention relates to methods for detecting underivatized non-metabolized vitamin D by mass spectrometry.

Abstract: A splice variant of bcr-abl mRNA that produces BCR-ABL protein with a truncated C-terminus and its role in resistance to treatment with kinase inhibitors is disclosed. Vectors for expressing the truncated gene product are provided as well as recombinant cells that express the truncated gene product from a cDNA construct. Also provided are methods compositions and kits for detecting the BCR-ABL splice variant. Additionally, methods for screening BCR-ABL kinase domain inhibitors which rely on the recombinant cells and methods of predicting likelihood for resistance of a CML patient with a BCR/ABL translocation respond to treatment with one or more BCR-ABL kinase inhibitors are also disclosed.

Abstract: Provided are methods for determining the amount of total thiamine in a body fluid sample using liquid chromatography and mass spectrometry. Total thiamine is converted to free thiamine by treatment with an acid phosphatase prior to thiamine separation and quantification.

Abstract: Provided are methods for determining the amount of thyroglobulin in a sample using various purification steps followed by mass spectrometry. The methods generally involve purifying thyroglobulin in a test sample, digesting thyroglobulin to form peptide T129, purifying peptide T129, ionizing peptide T129, detecting the amount of peptide T129 ion generated, and relating the amount of peptide T129 ion to the amount of thyroglobulin originally present in the sample.

Abstract: Methods are described for measuring the amount of a kisspeptin-54-derived peptides in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying a kisspeptin-54 derived peptides in a sample utilizing on-line extraction methods coupled with tandem mass spectrometric techniques.

Abstract: Provided are methods for determining the amount of lacosamide in a sample using mass spectrometry. The methods generally involve ionizing lacosamide in a sample and detecting and quantifying the amount of the ion to determine the amount of lacosamide in the sample.

Abstract: Systems and methods are provided for delivering information as alerts. Alerts may be sent to one or more destinations at one or more times, with possible destinations including, e.g., one or more dedicated software clients, portable wireless devices, and/or email accounts, among many other possibilities. The sender may receive confirmation of, and/or may keep persistent records of, among several possibilities, transmission of one or more of the alerts, receipt of one or more of the alerts by devices at their respective destinations, and/or presentation of the alert to the intended recipient. According to an embodiment of the invention, an alert may be used to delivery medical information, which may include an urgent result of a medical test that has been performed on a patient.

Abstract: Disclosed are methods for identifying the presence or absence of a target nucleic acid from one or more organisms in a biological sample, said method comprising: (a) spinning the sample at a rotational velocity sufficient to pellet cellular debris and fluorescence inhibitors present within the sample and reduce fluorescence interference or quenching in the sample; and (b) directly amplifying and detecting the target nucleic acid in the sample.

Abstract: Methods are provided for detecting the amount of one or more CAH panel analytes (i.e., pregnenolone, 17-OH pregnenolone, progesterone, 17-OH progesterone, dehydroepiandrosterone (DHEA), androstenedione, testosterone, deoxycorticosterone, 11-deoxycortisol, and cortisol) in a sample by mass spectrometry. The methods generally involve ionizing one or more CAH panel analytes in a sample and quantifying the generated ions to determine the amount of one or more CAH panel analytes in the sample. In methods where amounts of multiple CAH panel analytes are detected, the amounts of multiple analytes are detected in the same sample injection.

Abstract: The present technology relates to methods for determining whether a patient diagnosed with breast cancer, colorectal cancer, melanoma or lung cancer will benefit from or is predicted to be responsive to treatment with an individual therapeutic agent or a specific combination of therapeutic agents. These methods are based on screening a patient's solid tumors and detecting alterations in target nucleic acid sequences corresponding to a specific set of cancer-related genes. Kits for use in practicing the methods are also provided.