Lynne S Rosenblum

US Patent:

20110230365, Sep 22, 2011

Filed:

Mar 22, 2011

Appl. No.:

13/053626

Inventors:

Elizabeth Rohlfs - Hopkinton MA, US
Lynne Rosenblum - Hopkinton MA, US
Narasimhan Nagan - South Grafton MA, US
Zhaoqing Zhou - Natick MA, US
Ruth Heim - Shrewsbury MA, US

International Classification:

C40B 30/04
G01N 33/566
C12Q 1/68
C40B 30/00
C40B 40/06
C12Q 1/37
C07H 21/00
C07K 16/18
C40B 40/04
C12Q 1/02
H01J 49/26
H01J 49/40
G01N 27/26

US Classification:

506 9, 436501, 435 617, 435 611, 435 612, 506 7, 506 16, 435 23, 536 2431, 5303898, 506 15, 435 29, 250282, 204461

Abstract:

The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

US Patent:

20190367985, Dec 5, 2019

Filed:

Jan 22, 2019

Appl. No.:

16/253860

Inventors:

- Burlington NC, US
Lynne Rosenblum - Hopkinton MA, US
Narasimhan Nagan - South Grafton MA, US
Zhaoqing Zhou - Natick MA, US
Ruth Heim - Shrewsbury MA, US

Assignee:

Laboratory Corporation of America Holdings - Burlington NC

International Classification:

C12Q 1/6883
C12Q 1/6816
G01N 33/68

Abstract:

The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

US Patent:

20160138107, May 19, 2016

Filed:

Dec 21, 2015

Appl. No.:

14/976790

Inventors:

- Burlington NC, US
Lynne Rosenblum - Hopkinton MA, US
Narasimhan Nagan - South Grafton MA, US
Zhaoqing Zhou - Natick MA, US
Ruth Heim - Shrewsbury MA, US

International Classification:

C12Q 1/68

Abstract:

The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

US Patent:

20140234842, Aug 21, 2014

Filed:

May 6, 2014

Appl. No.:

14/271106

Inventors:

- Burlington NC, US
Lynne Rosenblum - Hopkinton MA, US
Narasimhan Nagan - South Grafton MA, US
Zhaoqing Zhou - Natick MA, US
Ruth Heim - Shrewsbury MA, US

International Classification:

C12Q 1/68

US Classification:

435 611, 536 2431

Abstract:

The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.