The underlying genetic defect for a majority of the disorders may be either detectable by Sequence Analysis or by Del/Dup Analysis. In these cases, the Sequence Analysis and Del/Dup Analysis together, so-called Plus Panels, provide the highest diagnostic yield. Blueprint Genetics Plus Panel prevents unnecessary clinical appointments after negative first line test results which are more common if only sequencing or Del/Dup analysis is performed at a time. Thus, it has potential to shorten the time for diagnostic process and to reduce total expenses compared to cascade screening. Many genetic changes can only be detected by Del/Dup analysis, and would be missed by classic Sequence Analysis alone.
Importantly, multiple mutations in the same gene may cause more severe disease for the affected person and therefore, determination of all the potential genetic causes for the phenotype is essential to fully understand the contribution of genetics to the patient’s disease.