We are looking to set up a first tier phenotype specific disease panel for inherited conditions. The aim is for low cost, first pass in a diagnostic lab, after which exome or targeted mendeliome could follow. We are heading towards a Life Technologies Ion Torent custom panel. Most genes have 99% coverage, and we are planning on 100 depth. Most colleagues have indicated a preference for Illumina platforms, but cost is a big factor in tiered testing. We have been told that Life Technologies are overcoming the issues with repetitive sequences. Does anyone have any advice as to what pitfalls/ hurdles we can expect to face on the Ion Torrent?

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