Human biomarker and genetic analysis

Statens Serum Institut (SSI), department for Congenital Disorders is responsible for the screening of all newborns in Denmark based on analysis of dried blood spot (DBS) samples. We have developed a range of high-sensitive high-capacity multianalyte assays / omics-techniques for analysis of samples for research purposes, see description of the laboratories below.

The Clinical Mass Spectrometry Lab has seven triple quadruple LC-MS instruments and one Q-Exactive. The lab is specialized in multiplex analysis of small molecules. The focus of the lab is on biobank samples and the primary matrices are DBS as well as plasma and serum. We can provide customized analyses of small molecules in these matrices. Our analytical services encompass quantitative analyses (e.g. steroids and vitamin D) as well as semi quantitative metabolomics analyses.

The Section for Biomarkers, Immunology and Antibodies uses different kinds of technologies for analysis of mainly proteins. The lab is specialized in multiplexing technologies and analysis of small volumes, especially from extractions from DBS samples. We are using assay automatization and have a high capacity. We have several developed in-house assays, and develop almost any kind of customized assay, or we can use commercial kits in our settings as an analytical service. For some assays, we can also offer in-house made antibodies. We have several years of experience in national and international collaboration and analytical services. We can analyze almost all kinds of sample matrixes, dried blood spot samples, plasma, serum, amniotic fluid, saliva, urine etc. The most widely used technology is Meso-Scale (multiplex technology) and ELISA.

The Neonatal Genetics Lab offers a modern facility using high degrees of automation as well as stringent and traceable workflows. The lab has specialized in whole genome characterizations of neonatal DBS samples using microarray and sequencing technologies, but are also experienced in multiple other sources of material and technologies. The lab is capable of analyzing tens of thousands of samples annually and have contributed to multiple national and international collaborations within the field of genetics.

  • Genome-wide analyses:
    • Whole Genome Genotyping
    • Whole Genome Methylation
    • Whole Transcriptome Analysis
    • Whole Exome Sequencing
    • Whole Genome Sequencing
  • Targeted technologies:
    • Targeted resequencing (all the way down to single exons)
    • Single variant determination using qPCR
    • Multiple variant determination using Mass Array
Mette Nyegaard


Mette Nyegaard , Medfødte Sygdomme
T. +45 32688136 @. View profile