Genome-wide sequencing (GWS) can be requested on patients that meet the eligibility criteria for testing. These criteria can also be found on the requisition. For each patient, the ordering provider is also required to provide documentation supporting GWS as an appropriate diagnostic strategy.

Please note: GSO does not currently offer expedited turnaround times. Applications for whole exome sequencing (WES) orders for these cases should continue to be submitted to the Ministry of Health’s Out-of-Country/Out-of-Province (OOC/OOP) Prior Approval Program for Laboratory Testing. Examples of such indications include:

  1. Fetal cases in an ongoing pregnancy, or
  2. Medically urgent cases for which expedited results (<4 weeks) are required and expected to immediately alter management

Please note: Trio cases (proband + two parents) will be randomized between whole exome sequencing and whole genome sequencing beginning April 1st, 2022.

Find the GSO site for your catchment area

  • Each site has been assigned a catchment area defined by the location of the institution where the patient receives a genetics consultation. The samples must be sent along with a complete requisition and supporting documents to the correct GSO site.

Submit a complete application with the samples

  • An application for GWS does not need to be submitted prior to sending a sample. The review of the GWS test order will be conducted once all samples and required documents have been received by SickKids or CHEO.
  • Prior to submitting a case to GSO, all clinically indicated investigations must be completed (e.g. microarray). The application should outline the results of these investigations and prior genetic testing.
  • Family member samples intended for GWS analysis must be received within 4 weeks of the proband’s sample. If not received within this timeframe, testing will proceed on the proband, without the missing family member samples.
  • A complete application includes:
    • A requisition for each proband and any additional biological family members. All requisition fields must be completed, notably the:
      • Clinical Data Sheet
      • Clinical GWS Testing Criteria and Provider Attestation
      • Testing acknowledgement form
    • Relevant clinical notes, letters, and/or reports
  • If you are a physician at SickKids or CHEO, please also complete the following:
    • Epic order
    • Detailed PhenoTips entry or Clinical Data Sheet