Randomization
Beginning April 1st, 2022, trio cases (proband + two parents) will be randomized to receive either exome sequencing or whole genome sequencing. Singleton, Duo, Quad, and Trio cases that do not include both parents will continue to receive exome sequencing. The genetic test report will include information on the type [...]
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Abstract Background: Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic laboratories. We describe the protocol for evaluating a 2-year pilot project, Genome-wide Sequencing Ontario, to offer high-quality clinical genome-wide sequencing [...]
Sample Collection at LifeLabs
LifeLabs will collect samples for genome-wide sequencing performed through GSO under the Ministry of Health's Community Access Pilot for Laboratory Services. A communication was sent to all LifeLabs collection sites on January 18th 2022 to notify each site of the change.