Clinical Genomics Uppsala

National facility, part of Diagnostics Development

Clinical Genomics Uppsala is jointly set up by Uppsala University, Uppsala University Hospital and SciLifeLab with the aim to catalyze the transition of novel research findings into molecular diagnostics for clinical use. The facility is fully integrated within the Uppsala University Hospital and has extensive experience in development and implementation of state-of-the-art next-generation sequencing (NGS) technology in routine diagnostics. The facility takes on research and development projects with a clear translational profile. With our team of facility associated geneticists, bioinformaticians and medical doctors, we can deliver clinical assessments of the detected variants with the aim to truly provide bench-to-bedside service.


Clinical Genomics Uppsala provides services within next generation sequencing (NGS) and other molecular technologies. We take on projects that include development of methods for clinical implementation or translational research with strong clinical utility.

Our services include:

  • Support with project design
  • Tissue processing of solid tumors
  • Quality control of samples prior to analysis
  • Sequencing library preparation
  • NGS and other molecular technologies
  • Bioinformatics support
  • Clinical interpretation of variants


  • Method development for translational research or diagnostic purposes
  • Genome-wide, exome and targeted DNA and RNA sequencing
  • Fusion gene detection
  • Gene expression analysis with NanoString
  • Sensitive mutation detection with Digital PCR

Current focus areas are solid tumors, hematological malignancies and inherited diseases.


  • Illumina NextSeq
  • Illumina MiSeq
  • Illumina MiniSeq
  • NanoString
  • Bio-Rad Digital PCR


  • Development and implementation of gene panels and exome sequencing for diagnosis of inherited diseases and different types of cancer into clinical routine.
  • Development of methods for gene panel analysis of formalin-fixed paraffin-embedded (FFPE) and liquid biopsy samples from patients with solid tumors.
  • Development of developed a PacBio based test for mutations in chronic myeloid leukemia (CLL) that confer resistance to treatment with tyrosine kinase inhibitors, in collaboration with Uppsala Genome Center.