Patent Document ID: 20160076087
Application ID: 14949097
Patent Flag: 0

Claim One:
1. A method of detecting a nucleic acid copy number variation in a genetic sample from a subject, comprising contacting first and second probe sets to the genetic sample, wherein the first probe set comprises a first labeling probe and a first tagging probe, and the 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, ligating at least parts of the first probe set by ligating the first labeling probe and the first tagging probe to form a first ligated probe set, ligating at least parts of the second probe set by ligating the second labeling probe and the second tagging probe to form a second ligated probe set, optionally amplifying the first and second ligated probe sets to form first and second amplified ligated probe sets, respectively, labeling at least parts of the first and second labeling probes and/or first and second amplified ligated probe sets with first and second labels, respectively, immobilizing at least parts of the first and second ligated probe sets and/or first and second amplified ligated probe sets to a substrate at a density in which the first and second labels of the first and second ligated probe sets and/or first and second amplified ligated probe sets are optically resolvable after immobilization, counting (i) a first number of the first label immobilized to the substrate, wherein the first number corresponds to a number of the first ligated probe set and/or the first amplified ligated probe set immobilized to the substrate, and (ii) a second number of the second label immobilized to the substrate, wherein the second number corresponds to a number of the second ligated probe set and/or the second amplified ligated probe set immobilized to the substrate, and comparing the first and second numbers to determine whether a first copy number of the first nucleic acid region of interest is different from a second copy number of the second nucleic acid region of interest, wherein a different between the first and second copy numbers indicates the presence of the nucleic acid copy number variation in the genetic sample.