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AssigneeLaboratory Corporation of America Holdings
InventorsElizabeth Rohlfs, Deborah Alexa Sirko-Osadsa, Lynne Rosenblum, Narasimhan Nagan, Zhaoqing Zhou, Ruth Heim
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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.
A method comprising:
A composition comprising a nucleic acid probe that specifically binds to a mutant CFTR gene containing at least one or more of a 1824delA, 2957delT, 4089insT, 4374+2T>C, 3064A>T, or 246C>G mutation in a cystic fibrosis transmembrane conductance regulator (CFTR) gene or protein.
A kit comprising one or more reagents that differentiate a normal CFTR gene or protein from a mutant CFTR gene or protein containing one or more mutations selected from Table 1, 2, 3 or 4.
Dependencies are inferred from the claim text.