## Oral Presentations
Our protocol evaluating MS/MS was adopted from [PERSON] et al. (2005). Tryptic digestion of the globin chains leads to a series of well-characterized peptides with known amino acid sequences. Their doubly-charged ions, formed under ESI+ conditions, have m/z ratios of between 200 and 1000 amu and are well suited for analysis with standard triple quad mass spectrometers. Since the characteristic peptides of HbA and Hb variants differ by an altered amino acid sequence the resulting mass shifts allow a highly specific detection of Hb variants. Up to now, 10,000 samples have been analyzed in parallel with capillary electrophoresis (Perkin Elmer/Sebia), resulting in the detection of two HbSS, and one HbSC affected newborns. Even by simple visual inspection of raw intensity data, their profiles are clearly distinguished from normal and carrier samples. Thus, detection of carriers can be prevented by setting appropriate cut-offs. No false positives/false negatives were observed with MS/MS. FIA-MS/MS shows promising results with regard to the rapid and specific detection of SCD in the context of newborn screening and the requirements in Germany not to report clinically insignificant results for children. [PERSON]; [PERSON]; [PERSON] [PERSON]; [PERSON]; [PERSON]; [PERSON]; [PERSON]; [PERSON] [PERSON]; [PERSON] Newborn blood spot screening for sickle cell disease by using tandem mass spectrometry: Implementation of a protocol to identify only the disease states of sickle cell disease. _Clin. Chem._**2014**, _60_, 373-380. Rapid and specific detection of clinically significant haemoglobinties using electrospray mass spectrometry-mass spectrometry. [PERSON]; [PERSON]; [PERSON]; [PERSON]; [PERSON] _Br. J. Haematol._**2005**, _130_, 635-643. _O-03. A Novel Method for Inclusion of all Urea Cycle Disorders into Newborn Screening_  
[PERSON] \({}^{1,2,*}\), [PERSON] \({}^{1,2}\), [PERSON] \({}^{2,3}\), [PERSON] \({}^{4}\) and [PERSON] \({}^{4}\)  
\({}^{1}\) Swiss Newborn Screening Laboratory, University Children's Hospital, Zurich, Switzerland  
\({}^{2}\) Children's Research Center, Zurich, Switzerland  
\({}^{3}\) Division of Metabolism, University Children's Hospital, Zurich, Switzerland  
\({}^{4}\) Labsystems Diagnostics Oy, Vantaa, Finland  
* Correspondence: [PERSON]; Tel. : +41-44-266-7732; Fax: +41-44-266-8110  
The inclusion of urea cycle disorders (UCD) detection into newborn screening (NBS) is highly desirable; however, it is hampered by the lack of a specific marker for most of these disorders (exceptions to this are citrulline and arginininosuccinate for detection of citrullinemia and argininosuccinic aciduria, respectively). Thus far, the common feature of all (proximal- and distal-) UCDs, hyperammonemia, is not directly detectable in dried blood spots (DBS). The quantification of secondary elevations of glutamine seemed, thus far, not feasible, based on the assumption of the instability of glutamine in DBS. We describe here a reliable method for the simultaneous detection of lysine and glutamine from DBS in multiple reaction monitoring (MRM) with a second-tier UPLC-method for the separation and specific quantification of glutamine. We combined this newly developed method with the measurement of all specific amino acids (arginine, argininosuccinic acid, citruline, ornithine, and proline), \(N\)-acetyl-glutamate, and orotic acid. This combination proofed to be a reliable and sensitive method for the detection of all UCDs using tandem-mass spectrometry NBS. The next step will be a prospective study with dried blood samples from patients with hyperammonemia, allowing further testing and evaluation of the method in practice.