Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Editor—Standard genetic tests usually involve obtaining a blood sample for DNA extraction. Other commonly used sources of DNA are buccal cells1 (from a cheek scraping) and hair roots,2 which are viable alternatives to a blood sample and less invasive to obtain, particularly useful in children. Some genetic tests require full mutation screening (at least of the affected subject in a family) and this can be greatly simplified, particularly for large, multiexon genes, by screening the mRNA as opposed to the DNA.3 The reason for this is simple; the mRNA contains all the relevant sequence in a compact “ready to screen” package rather than the many discrete packages (exons) found in DNA. In addition, mRNA is one step further down the gene-protein pathway and can yield more relevant information on the effect of a mutation (at least with regard to splicing). The problem with using RNA …