Mutation Analysis Facility (MAF)

Mutation Analysis Facility (MAF)

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. SNP genotyping, targeted epigenetic analyses, as well as genome wide analysis using the Illumina iScan platform are performed for a wide variety of applications according to accreditation ISO/IEC 17025 by SWEDAC. MAF runs approximately 50 projects/year. The current amount of samples analyzed per year is about 50 000. Between 2010 and 2015 MAF has collaborated with 20 different universities from around the world.


MAF also performs targeted epigenetic analyses with the Agena MALDI-TOF technique. Genome wide analyses are also carried out using the Illumina iScan platform with automated liquid handling system. Illumina has a broad portfolio of arrays for the iScan system which encompasses: genotyping, karyotyping, CNV analysis and methylation profiling. In 2012 MAF achieved accreditation of its organization, facilities and the Agena genotyping and DNA methylation analysis methods according to ISO/IEC 17025 by SWEDAC (Swedish Board for Accreditation and Conformity Assessment). MAF is also an Agena certified service provider.


MAF accepts DNA samples from several tens to hundreds or thousands of individuals for analyzing. Samples are tracked using barcodes and non-personally identifiable tracking numbers. MAF applies strict quality-control measures, including standard operating procedures (SOPs). The LIMS system is used to track samples and data. Several liquid handling robots are used to automate sample handling phases. 

  • The SNPs are analyzed by MALDI-TOF analysis using the Agena platform. 
  • Pre-prepared panels for sample ID analysis, zygosity and familial hypercholesterolemia. 
  • The targeted epigenetic analyses are performed with the Agena MALDI-TOF technique. 
  • The genome wide analyses are carried out using the Illumina iScan platform. There is a broad portfolio of Beadchips for the system which encompasses: genotyping, CNV analysis and DNA methylation.
  • DNA and RNA quality control is performed by using the Agilent Bioanalyzer technology. 
  • Somatic mutation quantification and virus genotyping are carried out using Agena MALDI-TOF technique.
  • MAF also provides experimental design and bioinformatics service.

Practical information

More information on how to order and pricing can be found on MAFs homepage

Please contact us if you want to use our services.

Interested in Industry collaboration
Karolinska Universitetssjukhuset, Huddinge
Karolinska University Hospital
141 86 Stockholm
+46 (0)8 585 800 00