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.
Despite the developments in conventional PCR, the complexity of multiplex Real Time PCR is still limited due to the lack of sufficient detection channels. To achieve high-end multiplexing capacity on standard Real Time PCR machines, Anapa Biotech has developed the MeltPlex® technology (see box on right).READ MORE