Myriad Genetics announces new study published in Prenatal Diagnosis

Myriad Genetics announced that Prenatal Diagnosis has published a study demonstrating exceptional positive predictive value for 22q11.2 microdeletion screening using Myriad’s prenatal cell-free DNA screen, Prequel, which incorporates fetal fraction amplification. Prior studies from other commercial pcfDNA laboratories have reported a broad range of PPV for the 22q11.2 microdeletion, with several well below 100%.2-6 The proprietary AMPLIFY technology in Prequel increases the relative amount of fetal-derived cfDNA more than two-fold on average and was previously shown to increase analytical performance of 22q11.2 microdeletion screening. The current study shows the clinical performance achieved by Prequel with AMPLIFY: among 22 patients who screened positive for 22q11.2 microdeletion and had diagnostic testing results available, all 22 were confirmed as positive.