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Abstract
We advocate a new paradigm for genetic diagnosis based on using customized array panels, each of which groups multiple genes and mutations associated with clinical profiles that are common to particular syndromic diseases. This parallel approach, based on a single-test multigene multiplexing strategy, compared with traditional sequential testing by gene-by-gene genetic analysis, drastically reduces the time and cost of diagnosis while maintaining accuracy and reliability. Faster diagnosis enables early decision-making to facilitate better patient management and outcomes at reduced costs to the healthcare system.
Financial & competing interests disclosure
Purificação Tavares, Luís Dias, Aida Palmeiro and Paula Rendeiro are employed by CGC Genetics, the company that has developed the Array CGC version of parallel genetic multiplexing discussed in this report. Peter Tolias discloses that he serves as a consultant for CGC Genetics. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.