32. A Strategy for Integrating the Inborn Errors Metabolism Screening with the Congenital Adrenal Hyperplasia Screening in a single LC-MS/MS measurement
Poster: Mon 6:30-7:30PM
Bruno Casetta
Bruno Casetta, AB SCIEX Monza (Italy)
The Newborn Screening protocol through the analysis by LC-MS/MS of the amino acids and the acyl-carnitines is now widely performed. Despite its consolidated reputation, there is still a debate regarding the need for the derivatization step as designed when the protocol has been introduced. Indeed the derivatization by butylation is regarded as a factor hampering the simplicity of the assay and some users accept to pay the sensitivity lack for making all the process as simple as possible. In the same context, there is now a request for enlarging the protocol in order to embrace the measurement of some steroids (notably the ones pertaining the congenital adrenal hyperplasia) but with the highest simplicity and with a workflow easily amenable to a full automation.
The poster is presenting some solutions under evaluation.