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.
Type:
Application
Filed:
March 17, 2022
Publication date:
September 22, 2022
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Ievgen Motorykin, Nigel Clarke, Michael J. McPhaul, Zengru Wu
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.
Type:
Grant
Filed:
December 9, 2019
Date of Patent:
September 20, 2022
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Weimin Sun, Matthew J. McGinniss, Donghui Huang, Arlene Buller, Raymond Fenwick, Mei Peng, Franklin Quan
Abstract: The present disclosure provides rapid and non-invasive methods for determining whether a patient exhibiting cancer symptoms, or at risk for hereditary cancers such as breast cancer, ovarian cancer, colon cancer, or skin cancer, will benefit from treatment with one or more therapeutic agents. These methods are based on detecting hereditary cancer-related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device (e.g., MITRA Tip). Kits for use in practicing the methods are also provided.
Abstract: The present disclosure provides rapid and non-invasive methods for determining whether a patient exhibiting cancer symptoms, or at risk for hereditary cancers such as breast cancer, ovarian cancer, colon cancer, or skin cancer, will benefit from treatment with one or more therapeutic agents. These methods are based on detecting hereditary cancer-related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device (e.g., MITRA Tip). Kits for use in practicing the methods are also provided.
Abstract: An inventory storage system including a container with an upper surface, a lower surface, a back wall and a front wall facing a width of the upper surface and the lower surface, a first removal slot disposed between the front wall and the lower surface, and a pair of sidewalls facing a length of the upper and lower surfaces. The container includes dividers defining one or more sections. The container includes pens stored within the sections of the container, the pens including at least a subset of first pens and a subset of second pens, with the subset of first pens is below the subset of second pens. The container includes spacers that prevent the subset of second pens from exiting the container via the first removal slot until the subset of first pens exit the container via the first removal slot.
Abstract: The disclosure relates to a genetic inheritance cancer predisposition panel utilizing targeted capture-based next-generation sequencing—the panel incorporates genes underlying well-characterized cancer syndromes and those associated with increased cancer risk. The disclosure further relates to methods of utilizing the genetic inheritance cancer predisposition panel for determining a cancer risk assessment for individuals with hereditary cancers and/or cancer syndromes.
Type:
Application
Filed:
July 17, 2020
Publication date:
September 1, 2022
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Sun Hee ROSENTHAL, Weimin SUN, Ke ZHANG, Anna GERASIMOVA, Andrew GRUPE, Felicitas LACBAWAN
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: Provided herein are methods for the diagnosis, or management of liver diseases, e.g., hepatocellular carcinoma, using profiles of the miRNAs determined from cellular or acellular body fluids.
Abstract: Described herein are methods for direct detection of microbial agent(s) in a polymicrobial sample, such as a biological sample from a human, without culturing the microbial agent(s). The direct detection can identify mixtures of bacteria and/or fungi in the sample. Also described are primer sequences and amplification techniques for performing the direct detection methods.
Abstract: The present technology provides polynucleotide compositions and methods of using the same to detect circulating tumor DNA (ctDNA) in a patient. Kits for use in practicing the methods are also provided.
Abstract: A system (100) for classifying a biological test sample, including a database (112) populated with reference expression data. The reference expression data includes expression levels of a plurality of molecules (polynucleotides or polypeptides), including a set of marker molecules, in a plurality of reference samples. Each reference sample has a pre-assigned value for each of one or more clinically significant variables. The system includes at least one processor (110) and at least one storage medium containing program instructions for execution by said processor (110). The program instructions cause the processor to accept (122) input expression data including a test vector of expression levels of the marker molecules in the biological test sample; and pass the input expression data to one or more analysis programs (130a, 130b, 135).
Abstract: The present disclosure describes a sequencing system configured to identify structural variants in mitochondrial DNA. Variant callers configured to identify variants in linear genomes (e.g., those found in chromosomes) can fail to properly identify structural variants in mitochondrial DNA. The system and methods can identify structural variants in next generation sequencing data collected from circular, mitochondrial DNA.
Abstract: Provided are methods for determining the amount of estrone in a sample using mass spectrometry. The methods generally involve ionizing estrone in a sample and detecting and quantifying the amount of the ion to determine the amount of estrone in the sample.
Abstract: An apparatus and method are provided to evaluate an amount of a biological sample in a specimen container. A fixture has a bottom surface configured to support a specimen container. A reference indicator is disposed at a predetermined height relative to the bottom surface. The reference indicator is configured to facilitate a visual comparison of the reference indicator with a height of a volume of a biological sample in the specimen container.
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 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: 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: 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: 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: Truncation variants of BCR-ABL mRNA that produces BCR-ABL proteins with a truncated C-terminus and its role in resistance to treatment with kinase inhibitors is described. Vectors for expressing the truncated gene products are described as well as recombinant cells that express the truncated gene products from cDNA constructs. Also provided are methods compositions and kits for detecting the BCR-ABL truncation variants. Also provided are methods for determining the prognosis of a patient diagnosed as having myeloproliferative disease, and methods for predicting the likelihood for resistance to a treatment with tyrosine kinase inhibitor in a patient diagnosed as having myeloproliferative disease. Additionally, methods for screening BCR-ABL tyrosine kinase domain inhibitors which rely on the recombinant cells are also disclosed.