Abstract: Disclosed herein are methods and compositions for detecting Bordetella pertussis and Bordetella parapertussis by detecting the presence of the IS481 and IS1001 genomic insertion sequences, respectively.
Type:
Application
Filed:
October 29, 2019
Publication date:
April 23, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Michelle M. Tabb, Ming-Chou Lee, Lilly I. Kong, Ning Lu, Michael Aye, Fan Chen, Jules Chen
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: Provided herein are methods for detecting and discriminating BRAF V600 mutations. Also provided herein are methods for diagnosis, prognosis, management, and treatment decisions of BRAF V600 mutation-related diseases or conditions.
Abstract: The present invention provides aptamers that specifically bind to the EGF receptor in a sample, and diagnostic and analytical methods using those aptamers. In some embodiments, the aptamers include a 3? cap. In some embodiments, the 3? cap is an inverted deoxythymidine. In some embodiments the aptamers include a spacer and at least one moiety selected from the group consisting of binding pair member and a detectable label, wherein the spacer is attached to the 5?-end of the aptamer and the moiety is attached the 5? end of the spacer. In some embodiments the spacer is hexaethylene glycol. In some embodiments, the binding pair member biotin. In some embodiments the detectable label is a fluorophore.
Type:
Grant
Filed:
May 5, 2017
Date of Patent:
April 14, 2020
Assignees:
Quest Diagnostics Investments Incorporated, Somalogic, Inc.
Inventors:
Chris Bock, Deborah Ayers, Malti P. Nikrad, Bharat Nathu Gawande, Jennifer C. Bertino, Weimin Sun, Charles M. Strom, Noh Jin Park
Abstract: Provided herein are methods for identifying the presence or absence of a target nucleic acid from a microorganism using direct amplification without a step of extraction of the nucleic acids, but retaining substantially the same specificity and sensitivity of methods assaying extracted nucleic acids.
Abstract: Methods are described for determining the amount of metabolites of leflunomide in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying teriflunomide in a sample.
Abstract: Methods are described for measuring the amount of a vitamin B2 in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying vitamin B2 in a sample utilizing on-line extraction methods coupled with tandem mass spectrometric techniques.
Abstract: The present disclosure provides methods for determining whether a patient exhibiting cystic fibrosis symptoms, or a patient at risk for cystic fibrosis, will benefit from treatment with one or more anti-cystic fibrosis therapeutic agents. These methods are based on detecting hereditary cystic fibrosis related mutations in small-volume dried biological fluid samples that are collected using a volumetric absorptive microsampling device. Kits for use in practicing the methods are also provided.
Abstract: The invention relates to the detection of DHA and EPA. In a particular aspect, the invention relates to methods for detecting DHA and EPA by mass spectrometry and kits for carrying out such methods.
Abstract: Computer systems and methods may display multi-dimensional data sets in a dynamically-generated ocular view, which may show the relationship between data points in the different dimensions. For example, such a data set may include in one dimension results of one or more laboratory tests and, in another dimension, body systems or functions that the respective tests may relate to. The ocular view may depict the relationships between the tests and the systems. By being generated dynamically, moreover, the ocular view may be able to present this information for arbitrary sets of test results, without a template having been generated in advance to specify the layout of some particular combination of results.
Abstract: Provided herein are methods and compositions for the detection of in-frame deletion germline mutations in the CALR gene. Also provided are methods for determining the prognosis of myeloproliferative diseases and the likelihood of developing somatic mutations in genes involved in the JAK-STAT pathway.
Abstract: The present disclosure provides methods for determining whether a patient exhibiting pertussis-like symptoms will benefit from treatment, with therapeutic agents that inhibit Bordetella holmesii. These methods are based on detecting Bordetella pertussis, Bordetella parapertussis, and Bordetella holmesii in a biological sample by assaying for the presence of the IS481, IS 1001, and hIS1001 target repeat elements, respectively. Kits for use in practicing the methods are also provided.
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 for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5?-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.
Type:
Application
Filed:
March 18, 2019
Publication date:
December 12, 2019
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Feras Hantash, Weimin Sun, David C. Tsao, Dana Marie Root, Charles M. Strom
Abstract: Described herein are methods, compositions and kits directed to the detection of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g., translocations, insertions, inversions and deletions. Samples containing dysregulated gene(s) of interest may show independent expression patterns for the 5? and 3? regions of the gene. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5? portion of a target gene relative to the 3? region of the target gene.
Type:
Grant
Filed:
October 5, 2018
Date of Patent:
December 10, 2019
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Heather R. Sanders, Maher Albitar, Aurelia Meloni-Ehrig
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 present technology is related to methods for detecting genetic alterations underlying intracranial neoplasms such as pituitary adenomas, meningiomas, and craniopharyngiomas. The methods disclosed herein are useful in determining whether a patient harboring an intracranial tumor will benefit from or is predicted to be responsive to treatment with an individual therapeutic agent or a specific combination of therapeutic agents. Kits for use in practicing the methods are also provided.
Abstract: The invention provides methods for isolating RNA from the soluble fraction of urine. The methods can be used for detecting the presence or absence of an RNA, or quantifying the amount of an RNA. The methods are useful for diagnosing an individual suspected of having a disease by detecting the level of RNA associated with the disease in the soluble fraction of urine. The methods are also useful for prognosing an individual diagnosed with a disease by detecting the level of RNA associated with the disease in the soluble fraction of urine.
Abstract: Described herein are methods and kits for detecting the presence or absence of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g. translocations, insertions, inversions and deletions. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5? portion of a target gene relative to the 3? region of the target gene. The average expression of the 5? portion of the target gene is compared with the average expression of the 3? portion of the target gene to determine an intragenic differential expression (IDE). The IDE can then be used to determine if a dysregulation or a particular disease (or susceptibility to a disease) is present or absent in a subject or sample.
Abstract: Described herein are methods for determining the overall survival of maintenance hemodialysis patients. The methods include measuring low density lipoprotein (LDL) particle size and subfraction concentrations as prognostic tools for early mortality risk detection. For example, the presence of increased very small LDL concentration or decreased LDL particle size in blood-serum serves as a useful means for prognostic risk assessment and monitoring.
Type:
Grant
Filed:
April 7, 2017
Date of Patent:
November 12, 2019
Assignees:
Quest Diagnostics Investments Incorporated, Los Angeles Biomedical Research Institute
Inventors:
Kamyar Kalantar-Zadeh, Michael P. Caulfield, Wael A. Salameh