Abstract: Provided herein are methods and compositions for detection of a nucleic acid target in a sample. The methods and compositions use primer directed amplification in conjunction with nucleic acid fragmentation. The methods have high sensitivity even in the presence of a large amount of non-target nucleic acid. Also provided are oligonucleotides and kits useful in the method. Exemplary nucleic acid targets are those with mutant gene sequence such as mutant sequence of the EGFR, APC, TMPRSS2, ERG and ETV1 genes.
Type:
Grant
Filed:
October 19, 2018
Date of Patent:
October 26, 2021
Assignee:
Quest Diagnostics Investments LLC
Inventors:
Heather R. Sanders, Kevin Z. Qu, Charles M. Strom, Richard A. Bender
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:
Application
Filed:
June 29, 2021
Publication date:
October 21, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Shih-Min CHENG, Joseph J. CATANESE, Andrew GRUPE, Feras HANTASH, Frederic M. WALDMAN, Kevin QU
Abstract: The systems and methods discussed herein can calculate sequencing statistics such as coverage depth for sequencing data. The present solution can determine variant frequencies and identify clinically relevant variants. The present solution can read BAM and VCF input files and Phred scaled quality scores. The present solution can select relatively high quality reads based on the quality scores and can calculate reference and alternative allele counts for SNPs, insertions and deletions (INDELs), and structural variants.
Type:
Application
Filed:
October 16, 2019
Publication date:
October 7, 2021
Applicant:
Quest Diagnostics Investments LLC
Inventors:
Anindya Bhattacharya, Anna Gerasimova, Quoclinh Nguyen, Christopher Elzinga, Edward Moler
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:
October 29, 2019
Date of Patent:
October 5, 2021
Assignees:
Quest Diagnostics Investments LLC, Los Angeles Biomedical Research Institute
Inventors:
Kamyar Kalantar-Zedeh, Michael P. Caulfield, Wael A. Salameh
Abstract: The present invention provides methods for analyzing large nucleic acids including chromosomes and chromosomal fragments. In one aspect, the present invention provides a method of nucleic acid analysis comprising the steps of (a) obtaining a sample of nucleic acid comprising at least one chromosome or fragment greater than about 1 000 base pairs in length and containing a target region; (b) creating an emulsion in which each drop of the emulsion contains an average of between about 0-2, 0-1.75, 0-1.5, 0-1.0, 0-0.75, 0-0.5, or fewer chromosomes or fragments of step (a), (c) performing emulsion PCR, (d) quantifying the number of emulsion droplets containing amplified nucleic acid from the target region; (e) calculating the ratio of droplets containing amplified nucleic acid from the target region to total droplets; and (f) comparing the ratio of step (e) to a reference ratio representing a known genotype.
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: 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: Methods are described for determining the amount of insulin in a sample. More specifically, mass spectrometric methods are described for detecting and quantifying insulin in a biological sample utilizing purification methods coupled with tandem mass spectrometric or high resolution/high accuracy mass spectrometric techniques.
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 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 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 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 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