Institute presentation

The aim of the Department for Congenital Disorders (in Danish) is to control congenital disorders by early diagnosis before onset of clinical symptoms. The department offers specialized diagnostic services for the Danish health care system employing a variety of laboratory tests and has an extensive R&D programme mainly supported by external funding. Most of the 50 employees are engaged in both routine diagnostics and R&D. The department is home for the Danish Centre for Neonatal Screening (in Danish) that screens all newborns for 17 congenital disorders. The screening analyses are performed on dried blood spot (DBS) samples taken a few days after birth by a prick in the heel. Surplus from these samples has since 1982 been stored in the Danish Neonatal Screening Biobank. Our department has developed a number of highly sensitive multi-analysis methods that make it possible to analyse this exceptional and very limited sample material for numerous genetic variants and disease markers, by different technologies, i.e., array-technology, Next Generation Sequencing, mass spectrometry and multiplex immunoassays. Combination of large datasets, like genome scans, whole genome sequences, DNA-methylation profiles and metabolomics profiles from the neonatal DBS samples with corresponding data from Danish disease registries constitutes an internationally unparalleled resource for research. It is hence possible to conduct case-control studies of hitherto unseen scale and quality, aiming at determine genetic variations and neonatal biomarkers predisposing to specific disorders later in life.