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 āCā 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
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:
Application
Filed:
October 5, 2020
Publication date:
April 1, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Matthew J. McGINNISS, Arlene M. BULLER, Franklin QUAN, Mei PENG, Weimin SUN
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: 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: A container for a specimen includes a container configured to receive a specimen for evaluation, a first label disposed on the container and having identifying information, and a second label disposed on the container so as to entirely cover at least all perimeter edges of the first label. The second label includes a viewing portion that allows for evaluation of the specimen and an identification portion configured to receive identifying information. Methods for using the container for a specimen are also disclosed.
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.
Type:
Application
Filed:
May 8, 2020
Publication date:
December 10, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Heather Sanders, Kevin QU, James PRENTICE, Frederic WALDMAN
Abstract: Methods are described for detecting or determining the amount of antidepressants and/or antidepressant metabolites in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying antidepressants and/or antidepressant metabolites in a sample.
Type:
Application
Filed:
May 29, 2020
Publication date:
December 3, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Anita Dermartirosian, Edith Shahbol, Karin Thomassian, Shaun Rezaei, Asad Shah
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 herein are methods for miRNA profiling for the diagnosis, prognosis, and management of melanoma and differentiation of melanoma from nevi.
Type:
Grant
Filed:
August 20, 2018
Date of Patent:
December 1, 2020
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Kevin Qu, Anthony Sferruzza, Ke Zhang, Yan Liu, Renius Owen
Abstract: The invention provides methods for isolating RNA from whole urine and urine fractions for the diagnosis of prostate cancer and/or benign prostate hyperplasia. An exemplary method for diagnosing prostate cancer in an individual, said method comprises: (a) determining the amount of RNA encoding one or more diagnostic genes in the soluble urine fraction of a urine sample obtained from said individual; (b) comparing the amount of said RNA to a reference value for said one or more diagnostic genes, wherein said reference value is derived from the amount of RNA encoding said one or more diagnostic genes in one or more individuals that do not have prostate cancer; and (c) diagnosing said individual as having prostate cancer when the amount of said RNA is greater than said reference value.
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.
Type:
Application
Filed:
April 10, 2020
Publication date:
October 29, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Maurice Exner, Luca Jacky, Yin-Peng Chen, Huong Mai, Michelle M. Tabb, Michael Aye
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.
Type:
Application
Filed:
December 21, 2018
Publication date:
October 8, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Nilesh Saratkar, Stanley Naides, Michelle A. Cleveland
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:
Grant
Filed:
June 2, 2017
Date of Patent:
October 6, 2020
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Peter Lee, Raymond Huang, Kristin Ramos, Jules Chen, Michelle Tabb
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:
Application
Filed:
December 9, 2019
Publication date:
August 27, 2020
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Weimin Sun, Matthew J. McGinniss, Donghui Huang, Arlene Buller, Raymond Fenwick, Mei Peng, Franklin Quan