ACMG Secondary Findings v3.1
ACMG Secondary Findings v3.1 As of January 1, 2023, we will be adopting the updated list of genes for secondary findings, as recommended by the American College of Medical Genetics and Genomics (ACMG SF v3.1, Miller et al. 2022, PMID: 35802134). Our updated list of medically actionable in childhood secondary [...]
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 [...]
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.
