公开(公告)号：US20190093176A1

公开(公告)日：2019-03-28

申请号：US16153108

申请日：2018-10-05

Applicant: Quest Diagnostics Investments LLC

Inventor： Heather R. Sanders ,  Maher Albitar ,  Aurelia Meloni-Ehrig

IPC: C12Q1/6886 ,  G06F19/20 ,  C12Q1/6858 ,  C12Q1/6851 ,  C12Q1/6809 ,  C12Q1/6827

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.

公开(公告)号：US20250138014A1

公开(公告)日：2025-05-01

申请号：US18913849

申请日：2024-10-11

Applicant: Quest Diagnostics Investments LLC

Inventor： Wanlong MA ,  Maher Albitar

IPC: G01N33/574 ,  C12Q1/6883

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.

公开(公告)号：US12153049B2

公开(公告)日：2024-11-26

申请号：US17694306

申请日：2022-03-14

Applicant: Quest Diagnostics Investments LLC

Inventor： Maher Albitar

IPC: C12Q1/6883 ,  A61K31/497 ,  A61K31/506 ,  C07K14/82 ,  C12N9/12 ,  G01N33/574

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.

公开(公告)号：US11828760B2

公开(公告)日：2023-11-28

申请号：US16118874

申请日：2018-08-31

Applicant: Quest Diagnostics Investments LLC

Inventor： Maher Albitar

IPC: G01N33/574 ,  G01N33/68

CPC classification number: G01N33/57426 ,  G01N33/57488 ,  G01N33/6869 ,  G01N2333/7051 ,  G01N2333/70503 ,  G01N2333/70514 ,  G01N2333/70517 ,  G01N2333/70596 ,  G01N2800/56

Abstract: The present invention provides methods of classifying cluster of differentiation (CD) marker phenotype for hematopoietic cancer cells using multiple circulating cell-free CD markers in bodily fluid. In other aspects, treatment and disease progression of particular hematopoietic cancers can be monitored by measuring the levels of CD and other markers in bodily fluids of a patient.

公开(公告)号：US11639529B2

公开(公告)日：2023-05-02

申请号：US16594718

申请日：2019-10-07

Applicant: Quest Diagnostics Investments LLC

Inventor： Heather R. Sanders ,  Maher Albitar ,  Aurelia Meloni-Ehrig

IPC: C12Q1/6886 ,  C07K16/40 ,  C12Q1/48

Abstract: The present disclosure relates to methods for the diagnosis and evaluation of neoplastic disorders, particularly non-small cell lung cancer. Assays are described in which patient test samples are analyzed for the presence of one or more specific EML4-ALK fusion genes associated with neoplastic disorders.

公开(公告)号：US11345964B2

公开(公告)日：2022-05-31

申请号：US16153094

申请日：2018-10-05

Applicant: Quest Diagnostics Investments LLC

Inventor： Maher Albitar ,  Wanlong Ma

IPC: C12Q1/68 ,  C12Q1/6883 ,  G01N33/574 ,  C12Q1/6816 ,  C12Q1/686

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.

公开(公告)号：US10954569B2

公开(公告)日：2021-03-23

申请号：US16158854

申请日：2018-10-12

Applicant: Quest Diagnostics Investments LLC

Inventor： Maher Albitar ,  Wanlong Ma

IPC: C12Q1/68 ,  C07H21/04 ,  C12Q1/6886 ,  C12N9/12 ,  C12Q1/6883 ,  G01N33/573 ,  C12Q1/6869

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.

公开(公告)号：US20200181718A1

公开(公告)日：2020-06-11

申请号：US16707661

申请日：2019-12-09

Applicant: Quest Diagnostics Investments LLC

Inventor： Heather R. Sanders ,  Maher Albitar ,  Aurelia Meloni-Ehrig

IPC: C12Q1/6886 ,  C12Q1/6858 ,  C12Q1/6851 ,  C12Q1/6827 ,  C12Q1/6809 ,  G16B25/00

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.

公开(公告)号：US11021758B2

公开(公告)日：2021-06-01

申请号：US16707661

申请日：2019-12-09

Applicant: Quest Diagnostics Investments LLC

Inventor： Heather R. Sanders ,  Maher Albitar ,  Aurelia Meloni-Ehrig

IPC: C12P19/34 ,  C12Q1/6886 ,  G16B25/00 ,  C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6851 ,  C12Q1/6858

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.