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 as well as high throughput sequencing, for a wide variety of applications, using the SOLiD system. The SNPs and methylation status are analyzed by MALDI-TOF using the SEQUENOM platform or Illumina Golden Gate technology.

For our genotyping service we will during 2011 seek accreditation by SWEDAC (the Swedish Board for Accreditation and Conformity Assessment) according to SS-EN ISO/IEC 17025:2005 quality standard.


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

  •  Forms:
  SEQUENOM Genotyping order
  SEQUENOM EpiTYPER order
  Sample information SEQUENOM
  Plate layout
  Order Agilent Bioanalyzer
  Delivery Note form
  •  Price Lists:
  SNP genotyping - Sequenom 
  Methylation - Sequenom 
  Zygosity analysis 
  DNA/RNA quality control 
  Genotyping - Illumina 
  Next Generation Sequencing 
  SNP project cost calculator 
  •  Resources: