New PGnome Sequencing Backbone Available

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We recently released an option for our pre-defined panels to be run on a PGnome® (genome) sequencing backbone. But you may be wondering … what’s a backbone?

In essence, selecting the PGnome sequencing backbone means that your test will be run using a genome probeset, but only data for the gene(s) included in the selected test will be interpreted and reported. This is similar to our PGxome sequencing backbone, the standard for most tests, where tests are run using an exome probeset but only data for gene(s) included in the selected test are interpreted and reported.

The benefits of selecting the PGnome sequencing backbone allow for improved, more uniform coverage; better structural variant (SV) calling including deletions, duplications, insertions and inversions; and assessment of deep intronic regions (where applicable) with the same turnaround time. PGnome panels typically provide slightly increased coverage over the PGxome equivalent, and therefore, may have incremental improvements in sensitivity. Finally, clients have the option to reflex to whole genome sequencing and can also add-on genome-wide Structural Variant (SV) analysis for additional costs.

Please note, PGxome® sequencing backbone is the default and, for now, PGnome sequencing backbone can only be ordered through the myPrevent portal. Additionally, only whole blood or DNA from whole blood are accepted specimens for PGnome sequencing. More details on genome sequencing with SV detection and genome-wide SV analysis can be found on our website. Test method information is aso available within individual test descriptions.