LC-MSMS reagents for neonatal screening and PKU patient monitoring at Oslo University Hospital Trust

Description

The aim of the procurement is to meet Oslo University Hospital´s need for LC-MS/MS reagents for newborn screening for congenital diseases as well as diagnostics and monitoring of PKU patients. Lot 1: The aim of the procurement is to meet Avdeling for nyfødtscreening's [the Newborn Screening Department] need for LC-MS/MS reagent kits for newborn screening for Phenylketonuria (PKU), Propionic acidemia (PA), Metylmalon acidemia (MMA), Isovalerianic acidemia (IVA), Holokarboksylase syntase defect (HCS/MCD), Beta-ketothiolase defect (BKT), Glutarsyreuri type 1 (GA1), Medium-chained acyl-CoA-dehydrogenase defect (MCAD), Long-chained 3-hydroksyacyl-CoA-dehydrogenase defect (LCHAD), Tri-functional protein defect (TFP), Very long-chained acyl-CoA- dehydrogenase defect (VLCAD), Karnitin-transporter defect (CTD), Karnitin-palmitoyltransferase I-defect (CTP IA), Karnitin-palmitoyltransferase II-defect (CTP II), Karnitin acylkarnitin-tranlokase defect (CACT), Glutarsyreuri type 2 (GA2), Maple Syrup Urine defect (MSUD), Homocystinuri/Hypermetioninemi (HCU/MET), Tyrosinemi type I (TYR I), and 3-OH 3-metylglutaryl-CoA lyase defect (HMG), as well as monitoring of PKU patients. There is also a requirement to test for adenosine deaminase defect (ADA-SCID) and argininosuccinate acid (ASA). The test is done by sampling blood on a filter sample card from the newborn´s heel 48-72 hours after birth. Avdeling for nyfødtscreening [the Newborn Screening Department] is currently carrying out approx. 55,000 samples from filter sampling cards and 3,500 PKU samples per annum.