公开(公告)号：US20200157641A1

公开(公告)日：2020-05-21

申请号：US16683893

申请日：2019-11-14

Applicant: QUEST DIAGNOSTICS INVESTMENTS LLC

Inventor： Shih-Min Cheng

IPC: C12Q1/6886 ,  C12Q1/6858

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.

公开(公告)号：US11098373B2

公开(公告)日：2021-08-24

申请号：US16683893

申请日：2019-11-14

Applicant: Quest Diagnostics Investments LLC

Inventor： Shih-Min Cheng

IPC: C12P19/34 ,  C12Q1/6886 ,  C12Q1/6858

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.

公开(公告)号：US11053542B2

公开(公告)日：2021-07-06

申请号：US16067189

申请日：2016-12-30

Applicant: Quest Diagnostics Investments LLC

Inventor： Shih-Min Cheng ,  Joseph J. Catanese ,  Andrew Grupe ,  Feras Hantash ,  Frederic M. Waldman ,  Kevin Qu

IPC: C12Q1/6874 ,  C12Q1/6886 ,  C12Q1/6869 ,  C12N15/10

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.

公开(公告)号：US11913079B2

公开(公告)日：2024-02-27

申请号：US17403537

申请日：2021-08-16

Applicant: Quest Diagnostics Investments LLC

Inventor： Shih-Min Cheng

IPC: C12P19/34 ,  C12Q1/6886 ,  C12Q1/6858

CPC classification number: C12Q1/6886 ,  C12Q1/6858 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q1/6858 ,  C12Q2537/143 ,  C12Q2537/165 ,  C12Q2539/105

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.