We develop new molecular diagnostic tools and strategies, to increase the quality and throughput of the molecular diagnostic methods.

We are presently working on the following projects:

  • Non-invasive prenatal testing, NIPT, with whole genome sequencing, WGS

  • Array comparative genome hybridization (Agilent) on single cells

  • Development and clinical implementation of a prenatal "Focused exome" analysis for Noonan Syndrome, skeletal and renal diseases

  • Development and clinical implementation of "Skin disease panels"

Further information:
MSc, PhD Rikke Christensen
MSc, PhD Jenny Blechingberg Friis