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Dr. Ingrid Simonic
Head of Cytogenetics
Cambridge University Hospitals

At one of the sites of the regional testing service in the UK, about 15,000 tests are performed each year supporting a population of 2.5 million. Why are so many tests performed? It’s not because there are so many patients but because many tests are performed per patient with a sequence of consecutive tests. But is so much testing necessary or can something be done to decrease this and streamline the system? The current testing strategy is reviewed along with reporting criteria. Based on prior positive experience with NxClinical where Dr. Simonic had performed validation on SNV selection in NxClinical and found 100% concordance with her lab’s pipeline, she decided to evaluate CN calling from NGS in the new NxClinical 4.0 software.  One of the goals was to see if the lab could consolidate the existing 2-3 stage consecutive testing workflow for constitutional referrals and replace with one SNV/CNV analysis pipeline. The lab examined 137 TruSight One NGS samples in NxClinical and compared to available array (Affymetrix CytoScan 750K) and MLPA results finding high concordance. Using NxClinical, it was also possible to perform family analysis to detect inheritance patterns and to identify SNVs in regions of homozygosity with compound event.