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DETECTION OF GENETIC ABNORMALITIES

  • US 20120190020A1
  • Filed: 01/23/2012
  • Published: 07/26/2012
  • Est. Priority Date: 01/25/2011
  • Status: Abandoned Application
First Claim
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1. An assay system for detection of the presence or absence of a fetal chromosomal abnormality comprising the steps of:

  • providing a mixed sample comprising cell free DNA;

    isolating two or more selected non-polymorphic nucleic acid regions from a first genomic region of interest in the mixed sample;

    isolating two or more selected non-polymorphic nucleic acid regions from a second genomic region of interest in the mixed sample;

    amplifying the selected nucleic acid regions from the first and second genomic regions using one or more rounds of amplification;

    detecting the amplified nucleic acid regions;

    quantifying a relative frequency of the selected nucleic acid regions from the first and second genomic regions of interest;

    comparing the relative frequency of the selected nucleic acid regions from the first and second genomic regions of interest; and

    identifying the presence or absence of a fetal chromosomal abnormality based on the compared relative frequency.

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