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Assays for single molecule detection and use thereof

  • US 9,758,814 B2
  • Filed: 11/23/2015
  • Issued: 09/12/2017
  • Est. Priority Date: 08/19/2013
  • Status: Active Grant
First Claim
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1. A method of detecting nucleic acid copy numbers in a genetic sample obtained from a subject, comprisingcontacting first and second probe sets to the genetic sample,wherein the first probe set comprises a first labeling probe and a first tagging probe, andthe second probe set comprises a second labeling probe and a second tagging probe,hybridizing at least parts of the first and second probe sets to first and second nucleic acid regions of interest in nucleotide molecules present in the genetic sample, respectively,optionally amplifying the first and second probe sets to form first and second amplified probe sets, respectively,labeling at least parts of the first and second labeling probes and/or first and second amplified probe sets with first and second labels, respectively,immobilizing at least parts of the first and second probe sets and/or first and second amplified probe sets to a substrate at a density in which the first and second labels of the first and second probe sets and/or first and second amplified probe sets are optically resolvable after immobilization,detecting (i) a first number of the first label corresponding to a number of the first probe set and/or the first amplified probe set immobilized to the substrate, and (ii) a second number of the second label corresponding to a number of the second probe set and/or the second amplified probe set immobilized to the substrate to detect the nucleic acid copy numbers.

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