Abstract
Atopic dermatitis (AD) is a common chronic waxing and waning disease. Of those with AD and European or Asian ancestry, more than 20% will have a FLG loss of function mutation (FLG null) resulting in the absence or near absence of filaggrin protein in the stratum corneum. It has been suggested that FLG null genetic testing might be a helpful clinical tool. The FLG gene is difficult to sequence because of its large, redundant, and repetitive structure limiting the availability of specific primer binding sites for PCR amplification. There are several techniques that are commonly used for genetic testing including the more time intensive TaqMan® allelic discrimination assays and high-throughput methods that utilize beadchip technology. The goal of this study was to compare the reliability (the consistency of and ability to replicate a measurement) and validity (the ability of a measurement to identify the correct event) of these two techniques.