Abstract: An apparatus for use in biological sampling includes a plate configured for attachment to a sample rack. The plate comprising a plurality of openings extending therethrough that each have a non-circular shape that comprises a first portion and a second portion, the first portion having a smaller lateral dimension than the second portion. The smaller first portion is configured to facilitate removal of a sampling tip from a sampling device to allow for improved automation of the sampling analysis operation.
Abstract: Described herein are methods for diagnosing melanoma or basal cell carcinoma based on mutations in the DDR2 gene. Further, a distinct subgroup of BRAF-mutated melanomas have somatic mutations in the DDR2 gene as well. Applications of this finding to routine diagnostics include the molecular stratification of melanoma, and the tissue identification of targetable DDR2 kinase mutations in routine formalin-fixed paraffin-embedded sections. Described herein are methods, compositions and kits related to the discovery that DDR2 mutations may be markers for melanoma generally, and BRAF-mediated melanoma in particular, opening up the possibility of dual therapy for melanoma by targeting both DDR2 and BRAF.
Type:
Grant
Filed:
December 17, 2018
Date of Patent:
September 14, 2021
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Daniel M. Jones, Yongbao Wang, Shere Billouin-Frazier, Justin Windham
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: The present technology relates to methods for excluding Lynch syndrome as a possible diagnosis in patients suffering from colorectal cancers or endometrial cancers. These methods are based on detecting the methylation status of the MLH1 promoter ‘C’ region in colorectal and endometrial cancer patients using an improved and highly sensitive methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.
Abstract: Methods and kits for detecting alternating spatial expression of PTEN and, optionally, SMAD4, CD44, and/or TP53 in colonic tumors are described. The methods and kits are useful for identifying a cancer stem cell (CSC)-like zone within a colonic tumor, identifying an adenoma-adenocarcinoma (Ad-ACA) transition zone in a colorectal cancer (CRC) tumor, identifying a CRC tumor that contains high-grade adenoma and/or early adenocarcinoma regions, identifying CSCs in a CRC tumor, diagnosing a subject with high-grade colon adenoma and/or early adenocarcinoma, and determining the likelihood that a colonic tumor in a subject will undergo invasive transformation if left untreated.
Type:
Application
Filed:
January 11, 2021
Publication date:
August 19, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Daniel Jones, Kevin J. Arvai, Ya-Hsuan Hsu
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: The present disclosure relates to methods of detecting various analytes, including glycated hemoglobin (HbA1c) and total hemoglobin (THb), in a biological sample obtained with a microsampling device.
Type:
Application
Filed:
August 21, 2019
Publication date:
August 5, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Nigel Clarke, Mildred Goldman, Jueun Kim, Jane Yang
Abstract: Disclosed is a method for determining the presence of Mycobacterium avium complex nucleic acids in a biological sample. In particular, the mig gene of M. avium and the DT1 gene of M. intracellulare are detected, preferably following amplification. In addition, the method distinguishes between species of M. avium and M. intracellulare.
Abstract: The present technology relates to methods for determining whether a patient having thyroid nodules with indeterminate cytology will benefit from diagnostic surgery, e.g., lobectomy. These methods are based on screening a patient's thyroid nodules and detecting alterations in target nucleic acid sequences corresponding to a specific set of thyroid cancer-related genes. Kits for use in practicing the methods are also provided.
Type:
Grant
Filed:
December 30, 2016
Date of Patent:
July 6, 2021
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Shih-Min Cheng, Joseph J. Catanese, Andrew Grupe, Feras Hantash, Frederic M. Waldman, Kevin Qu
Abstract: The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.
Abstract: The present invention relates to methods for simultaneously determining the presence or absence of mutations, deletions, duplications and single nucleotide polymorphisms in a cystic fibrosis transmembrane regulator (CFTR) nucleic acid. Oligonucleotide primers and kits used to amplify regions of a CFTR nucleic acid for high throughput, massively parallel sequencing and methods of determining an individual's cystic fibrosis status are also disclosed.
Abstract: The present invention provides methods and compositions for determining the presence and/or amount of pathogenic Leptospira in a test sample. In particular, substantially purified oligonucleotide primers and probes are described that can be used for qualitatively and quantitatively detecting pathogenic Leptospira nucleic acid in a test sample by amplification methods. The present invention also provides primers and probes for generating and detecting control nucleic acid sequences that provide a convenient method for assessing internal quality control of the Leptospira assay.
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:
December 9, 2019
Date of Patent:
June 1, 2021
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Heather R. Sanders, Maher Albitar, Aurelia Meloni-Ehrig
Abstract: Provided herein are methods for miRNA profiling for the diagnosis, prognosis, and management of melanoma and differentiation of melanoma from nevi.
Type:
Application
Filed:
November 24, 2020
Publication date:
May 20, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Kevin Qu, Anthony Sferruzza, Ke Zhang, Yan Liu, Renius Owen
Abstract: The present technology relates to methods for excluding Lynch syndrome as a possible diagnosis in patients suffering from colorectal cancers or endometrial cancers. These methods are based on detecting the methylation status of the MLH1 promoter ‘C’ region in colorectal and endometrial cancer patients using an improved and highly sensitive methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.
Abstract: The present invention relates to methods for amplifying various regions of the cystic fibrosis transmembrane regulator (CFTR) gene. Methods are provided for amplifying one or all 27 exons of the CFTR gene and a portion of the CFTR promoter region in a single tube. The method can identify the presence or absence of CF deletions or insertions in a sample and assist in the diagnosis of a genetic predisposition to cystic fibrosis.
Abstract: The present technology relates to methods for excluding Lynch syndrome as a possible diagnosis in patients suffering from colorectal cancers or endometrial cancers. These methods are based on detecting the methylation status of the MLH1 promoter ‘C’ region in colorectal and endometrial cancer patients using an improved and highly sensitive methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.
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.
Type:
Grant
Filed:
March 30, 2018
Date of Patent:
April 20, 2021
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Dov Shiffman, Carmen Tong, James J. Devlin, Michael J. McPhaul
Abstract: The present disclosure provides methods and compositions for determining whether a patient exhibiting acute gastroenteritis will benefit from treatment with therapeutic agents that inhibit Norovirus genogroup I (GI) or Norovirus genogroup II (GII). The methods disclosed herein are based on detecting Norovirus genogroup I (GI) and Norovirus genogroup II (GII) in a stool sample without extracting viral nucleic acids from a clinical specimen prior to performing real-time reverse transcription PCR. Kits for use in practicing the methods are also provided.
Type:
Application
Filed:
October 5, 2020
Publication date:
April 1, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Peter Lee, Raymond Huang, Kristin Ramos, Jules Chen, Michelle Tabb