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.

Contact person:
Kristina Duvefelt, PhD (Lab Manager)
Tel: +46 8 58583693

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