公开(公告)号：US11447826B2

公开(公告)日：2022-09-20

申请号：US16707584

申请日：2019-12-09

Applicant: Quest Diagnostics Investments LLC

Inventor： Weimin Sun ,  Matthew J. McGinniss ,  Donghui Huang ,  Arlene Buller ,  Raymond Fenwick ,  Mei Peng ,  Franklin Quan

IPC: C12Q1/6883 ,  G01N33/68

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.

公开(公告)号：US20210130896A1

公开(公告)日：2021-05-06

申请号：US16909278

申请日：2020-06-23

Applicant: Quest Diagnostics Investments LLC

Inventor： Feras Hantash ,  Weimin Sun

IPC: C12Q1/6883 ,  C12Q1/6858

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.

公开(公告)号：US12134765B2

公开(公告)日：2024-11-05

申请号：US17977716

申请日：2022-10-31

Applicant: Quest Diagnostics Investments LLC

Inventor： Ben Anderson ,  Charles Strom ,  David Tsao ,  Yan Liu ,  Weimin Sun

IPC: C12Q1/6806 ,  C12N15/10 ,  C12Q1/686

Abstract: Provided herein are methods and systems for cell-free DNA extraction from liquid biological samples. The methods can be employed for determination of fetal DNA fraction and non-invasive prenatal screening of fetal aneuploidies and analyses of other types of cell-free DNA.

公开(公告)号：US20230265510A1

公开(公告)日：2023-08-24

申请号：US17963045

申请日：2022-10-10

Applicant: Quest Diagnostics Investments LLC

Inventor： Feras Hantash ,  Weimin Sun ,  David C. Tsao ,  Dana Marie Root ,  Charles M Strom

IPC: C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/683 ,  C12Q1/6858 ,  G16B25/20

CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/683 ,  C12Q1/6858 ,  G16B25/20 ,  G16B99/00

Abstract: Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5′-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.

公开(公告)号：US20200270687A1

公开(公告)日：2020-08-27

申请号：US16707584

申请日：2019-12-09

Applicant: Quest Diagnostics Investments LLC

Inventor： Weimin Sun ,  Matthew J. McGinniss ,  Donghui Huang ,  Arlene Buller ,  Raymond Fenwick ,  Mei Peng ,  Franklin Quan

IPC: C12Q1/6883 ,  G01N33/68

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.

公开(公告)号：US11466325B2

公开(公告)日：2022-10-11

申请号：US16357247

申请日：2019-03-18

Applicant: Quest Diagnostics Investments LLC

Inventor： Feras Hantash ,  Weimin Sun ,  David C. Tsao ,  Dana Marie Root ,  Charles M Strom

IPC: C12Q1/68 ,  C07H21/04 ,  C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/683 ,  C12Q1/6858 ,  G16B25/20 ,  G16B99/00

Abstract: Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5′-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.