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：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.