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 high-throughput genomic services for late-stage, translational research projects and develops new genetic tests for clinical diagnostics within health-care. We take on projects in the following three categories:

  • Routine diagnostics
  • Development projects aimed for clinical implementation
  • Translational research projects with strong clinical utility


Genome-wide, exome and targeted DNA and RNA sequencing. Method development for variant detection, fusion gene detection, structural variation detection, for diagnostic purposes or translational research. Focus areas are:

  • solid tumors
  • hematological malignancies
  • inherited diseases


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


  • Liquid biopsy gene panel test developed and implemented in routine care for EGFR pathway genes in lung cancer
  • Diagnostic gene panel tests for several FFPE solid tumors (colon, lung, ovarian, GIST, melanoma) developed and implemented in routine care
  • Diagnostic gene panel tests for CLL, AML and MDS developed and implemented in routine care
  • Collaboration with Uppsala Genome Center to develop and run PacBio based test for mutations that confer TKI-resistance in BCR-ABL1 fusion genes in Chronic Myeloid Leukemia
  • Diagnostic gene panel tests for several inherited diseases developed, implemented and accredited for routine care
  • Diagnostic whole exome sequencing developed and implemented for inherited diseases