Advanced Copy Number Variant Analysis with qbasePLUS 2
Poster Sep 13, 2012
Barbara D’haene, Jo Vandesompele and Jan Hellemans
Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (IAA) and allied disorders, such as Leri-Weill dyschondrosteosis (LWD). To allow fast and reliable molecular testing, D’haene et al. (JCEM, 2010) introduced a quantitative PCR (qPCR) based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions.
When there is a need to quickly analyze samples using a number of different PCR assays, it is likely that optimal conditions for each assay will not be the same. First, different assays often will require different annealing temperatures for their primers. In addition, amplicons may be designed to be of different lengths and therefore require varying durations of the extension step.READ MORE