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US 6,500,621 B2Granted
DNA diagnostics based on mass spectrometry
AssigneeSequenom, Inc.
InventorHubert Köster
Life of this patent
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Abstract
Fast and highly accurate mass spectrometry-based processes for detecting particular nucleic acid molecules and sequences in the molecules are provided. Depending upon the sequence to be detected, the processes, for example, can be used to diagnose a genetic disease or a chromosomal abnormality, a predisposition to a disease or condition, or infection by a pathogen, or for determining identity or heredity.
Claims21
A process for detecting one or more target nucleic acid sequences in a biological sample, comprising:
- a) digesting nucleic acids from the sample;
- b) analyzing digested fragments by mass spectrometry;
- c) detecting a target nucleic acid sequence by a specific molecular weight, wherein detection of the target nucleic acid by mass spectrometry indicates the presence of the target nucleic acid sequence in the biological sample.
A process for detecting one or more target nucleic acid sequences in a biological sample, comprising:
- a) amplifying nucleic acids from the sample;
- b) analyzing nucleic acids in the sample by mass spectrometry;
- c) detecting a target nucleic acid sequence by a specific molecular weight, wherein detection of the target nucleic acid by mass spectrometry indicates the presence of the target nucleic acid sequence in the biological sample.
Dependencies are inferred from the claim text.