The purpose and mission of the Mutation Analysis core Facility (MAF) is to help scientists at Karolinska Institutet, its associated hospitals, and other academic institutions to perform genetic, epigenetic and genetic-epidemiological research in order to identify and assess genetic factors involved in different disease processes.

Single nucleotide polymorphism (SNP) genotyping has been offered since 2003 and from 2010 we also perform targeted epigenetic analyses with the Agena MALDI-TOF technique. We also carry out genome wide analysis using the Illumina iScan platform. There is a broad portfolio of Beadchips for the system which encompasses: genotyping, CNV analysis, DNA methylation and gene expression profiling.

MAF has an accreditation of its organization, facilities and the Agena genotyping and DNA methylation analysis methods according to ISO/IEC 17025 by SWEDAC.

In 2014, Agena Bioscience acquired the Bioscience business of Sequenom, Inc. As a result, both names, Agena and Sequenom, are used. However, the names refer to the same entity.

Liquid Biopsy Service
MAF offers liquid biopsy somatic mutation analysis. Samples are analyzed using the UltraSEEK™ cancer panels on the Agena MassARRAY® platform. The UltraSEEK™ chemistry is highly sensitive (0.1% mutation allele frequency) and identifies mutations across BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA from only 10 ng input DNA.
More information see the Liquid biopsy service - Agena



Contact person:
Kristina Duvefelt, PhD (Lab Manager)
Tel: +46 8 58583693
email: Kristina.Duvefelt@ki.se

  •  Forms:
  Agena Genotyping order
  Agena EpiTYPER order
  Illumina order
  Agilent Bioanalyzer order
  Sample information
  Plate layout
  Delivery Note form
  •  Price Lists:
  Zygosity analysis 
  Sample ID analysis 
  DNA/RNA quality control 
  Genotyping and methylation -   Illumina 
  •  Resources: