This is not the specific workflow used by every lab, but rather outlines the formal framework that clinical labs should use when classifying variants. Additionally if labs are CAP or CLIA certified there are reams of accompanying documentation of their process and a testing framework must be in place to show reproducibility. The ACMG continues to refine these recommendations and a new set of guidelines will be released soon. This is in stark contrast to research labs, where there is no single framework used to classify variants.
Is the 5 tier still in place- or is it three tier now?
Original genomic tests were often specified for a non-specific phenotype (like developmental delay) and the technology of the time did not allow for the identification of small scale events.
If a disease doesn’t affect a lot of people, there won’t be a specific test available. It is also difficult to o keep tests up to date as many groups are reporting on variants in genes that have only been associated with disease in the last couple of years.
Slide- difference between discovery and research
Susceptibility to thyrotoxic periodic paralysis
Add number of genes on fix patches (and only on fix patches and alt loci)- maybe show an example- SRGAP!