Funding for this research was provided by:
Cancer Institute NSW
Received: 30 June 2020
Accepted: 2 February 2021
First Online: 25 February 2021
Ethics approval and consent to participate
: This research was approved by the ethics committee from the Royal Prince Alfred Hospital, Sydney, Australia (HREC ref. no. 13/RPAH/363). <i>ClinSV</i> was developed and validated within our own ISO15189 clinically accredited laboratory (NATA/RCPA ref. no. 19887) using deidentified diagnostic specimens from several diagnostic laboratories, in accordance with the National Pathology Accreditation Advisory Council (NPAAC) laboratory accreditation framework. Patients referred to the South Eastern Area Laboratory, Sydney and Children’s Hospital of Westmead, Sydney diagnostic laboratories provided informed consent for copy number analysis of their DNA, while patients referred directly to our accredited laboratory provided informed written consent for analysis of their DNA by WGS including CNV analysis for the purpose of obtaining a molecular diagnosis. This research conforms to the principles of the Helsinki Declaration.
: Not applicable.
: The authors declare that they have no competing interests.