The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Apr. 25, 2017

Filed:

Dec. 21, 2015
Applicant:

Laboratory Corporation of America Holdings, Burlington, NC (US);

Inventors:

Elizabeth Rohlfs, Hopkinton, MA (US);

Deborah Alexa Sirko-Osadsa, North Grafton, MA (US);

Lynne Rosenblum, Hopkinton, MA (US);

Narasimhan Nagan, South Grafton, MA (US);

Zhaoqing Zhou, Natick, MA (US);

Ruth Heim, Shrewsbury, MA (US);

Assignee:
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C07H 21/04 (2006.01); C12Q 1/68 (2006.01); G01N 33/68 (2006.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6816 (2013.01); G01N 33/6872 (2013.01); C12Q 2600/112 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/16 (2013.01); G01N 2800/382 (2013.01);
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.


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