Method for detecting cystic fibrosis
AssigneeQuest Diagnostics Investments Incorporated
InventorSteven Patrick RIVERA
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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.
Claims17
A method for determining the nucleotide sequence of a sample CFTR nucleic acid comprising:
- (a) producing an adapter-tagged amplicon library by amplifying multiple target segments of the sample CFTR nucleic acid, wherein each target segment is amplified with a pair of oligonucleotide primers, wherein at least one primer of the primer pair is selected from the group consisting of SEQ ID NOS:
- 3-174;
- and
- (b) determining the nucleotide sequences of the target segments by sequencing the amplicons in the amplicon library using high throughput massively parallel sequencing.
A kit comprising an oligonucleotide primer selected from the group consisting of SEQ ID NO:
- 3-174, wherein the primer further comprises a fluorescent label.
Dependencies are inferred from the claim text.