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: 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: Provided herein are methods and systems for cell-free DNA extraction from liquid biological samples. The methods can be employed for determination of fetal DNA fraction and non- invasive prenatal screening of fetal aneuploidies and analyses of other types of cell-free DNA.

Abstract: Provided are methods of detecting the presence or amount of a vitamin D metabolite in a sample using mass spectrometry. The methods generally directed to ionizing a vitamin D metabolite in a sample and detecting the amount of the ion to determine the presence or amount of the vitamin D metabolite in the sample. Also provided are methods to detect the presence or amount of two or more vitamin D metabolites in a single assay.

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: The invention relates to the detection of vitamin D metabolites. In a particular aspect, the invention relates to methods for detecting derivatized vitamin D metabolites by mass spectrometry.

Abstract: The present solution describes an automated system for analyzing analytical gels or blots, such as electrophoresis gels. The system can automatically detect the lanes within the gel and convert the lane into a feature vector that can be compared to reference datasets. Based on a comparison of the feature vector to the reference datasets, the system can automatically classify the feature vector (and the test sample in the lane) into a phenotype group.

Abstract: Provided are methods for detecting or determining the amount of guanidinoacetate (GAA), creatine, and creatinine by mass spectrometry.

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 N-Desmethyl Tamoxifen. In some aspects, the methods provided herein determine the amount of N-Desmethyl Tamoxifen and other tamoxifen metabolites. In some aspects, the methods provided herein determine the amount of tamoxifen, N-Desmethyl Tamoxifen, and other tamoxifen metabolites.

Abstract: Described herein are methods, compositions and kits directed to amplification of nucleic acids suitable for both next generation sequencing (NGS) and a second round of sequencing as validation, such as Sanger sequencing.

Abstract: Provided are methods for determining the apolipoprotein E (ApoE) phenotype in a sample by mass spectrometry; wherein the ApoE allele(s) present in the sample is determined from the identity of the ions detected by mass spectrometry. In another aspect, provided herein are methods for diagnosis or prognosis of Alzheimer's disease or dementia.

Abstract: A method for determining an amount of teriflunomide in a sample by mass spectrometry includes adding an internal standard to the sample, subjecting the sample to solid phase extraction, purifying the sample by high turbulence liquid chromatography, ionizing the sample to produce one or more teriflunomide ions detectable by mass spectrometry, determining the amount of the one or more teriflunomide ions by mass spectrometry, and using the amount of the one or more ions determined to further determine the amount of teriflunomide in the sample.

Abstract: The invention relates to the detection of fatty acids. In a particular aspect, the invention relates to methods for detecting very long chain fatty acids and branched chain fatty acids by mass spectrometry.

Abstract: Methods are provided for detecting insulin-like growth factor-I (IGF-I) variant(s) in a sample. Methods provided herein are further directed to using the detected ion or ions to determine the presence of IGF1 variant(s) in the sample.

Abstract: The present disclosure provides methods for detecting inherited mutations (e.g., Ashkenazi Jewish carrier mutations, beta thalassemia mutations or an alpha thalassemia mutations) using multiplex gene-specific PCR. Kits for use in practicing the methods are also provided.

Abstract: The present invention relates to methods for the diagnosis of bacterial vaginosis based on an analysis of a patient sample. For example, patient test samples are analyzed for the presence or absence of one or more lactobacilli and two or more pathogenic organisms. The presence or absence of one or more lactobacilli and two or more pathogenic organisms may be detected using PCR analysis of nucleic acid segments corresponding to each target organism. The quantity of the target organisms can then be used to determine a score which is indicative of a diagnosis of bacterial vaginosis.

Abstract: The present solution describes an automated system for analyzing analytical gels or blots, such as electrophoresis gels. The system can automatically detect the lanes within the gel and convert the lane into a feature vector that can be compared to reference datasets. Based on a comparison of the feature vector to the reference datasets, the system can automatically classify the feature vector (and the test sample in the lane) into a phenotype group.

Abstract: Provided are methods for the detection or quantitation of amyloid beta. In a particular aspect, provided herein are methods for detecting amyloid beta or fragments thereof by mass spectrometry. In another aspect, provided herein are methods for determining the ratio of amyloid beta 42 (A?42) to amyloid beta 40 (A?40). In another aspect, provided herein are methods for diagnosis or prognosis of Alzheimer's disease or dementia.

Abstract: Methods are described for diagnosing or prognosing insulin resistance in diabetic and pre-diabetic patients, the method comprising determining the amount of insulin and C-peptide in a sample. Provided herein are mass spectrometric methods for detecting and quantifying insulin and C-peptide in a biological sample utilizing enrichment and/or purification methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques.

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.