Invitae has always confirmed any reported CNV event by performing array comparative genome hybridization (aCGH) with a custom designed exon-focused microarray. This is the industry standard technique for these events.
Exceptions to our current CNV confirmation policy are:
- PMS2: MLPA (multiplex ligation-dependent probe amplification), not aCGH, is used for exons 11-15 of PMS2.
- PMP22 full gene duplication: This event has been whitelisted and no longer requires confirmation due to its high frequency and robust primary calling by our CNV calling algorithm from NGS results.