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US 2019/0100804 A1Published application
Method for detecting cystic fibrosis
AssigneeQuest Diagnostics Investments Incorporated
InventorSteven Patrick Rivera
Life of this patent
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Abstract
The present invention relates to methods for simultaneously determining the presence or absence of mutations, deletions, duplications and single nucleotide polymorphisms in a cystic fibrosis transmembrane regulator (CFTR) nucleic acid. Oligonucleotide primers and kits used to amplify regions of a CFTR nucleic acid for high throughput, massively parallel sequencing and methods of determining an individual's cystic fibrosis status are also disclosed.
Claims7
1-16. (canceled)
A kit comprising an oligonucleotide primer comprising a sequence selected from the group consisting of SEQ ID NOs:
- 3-174, wherein the primer further comprises a label.
Dependencies are inferred from the claim text.