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Illumina DNA test for Down Syndrome more accurate

  • Illumina's (ILMN +1.3%) cell-free DNA testing technology was more accurate than traditional techniques in diagnosing Down syndrome and Edwards syndrome.
  • The false-positive rate of Illumina's cfDNA product was 0.3% for Down syndrome vs 3.6% for standard screening, and 0.2% for Edwards vs 0.6%.
  • The study could lead to the testing in expectant mothers beyond only those considered at high risk for having babies with Down and Edwards syndromes.
  • The results of the study were published in the New England Journal of Medicine.
  • Three other companies in the U.S. provide cfDNA testing - Sequenom (SQNM +3%), Ariosa Diagnostics and Natera.
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