American Family Children's Hospital

Pharmacogenetic Assays

Gene Expression Assays


Gene expression assays are performed by real time PCR with a reaction specific internal standard. The Cancer Pharmacology Core provides comprehensive services, including development of primers and internal controls, RNA extraction from cell culture, peripheral blood mononuclear cells, paraffin embedded tissue and other matrices, assay performance and data analysis.


Genotyping and Mutation Assays


The Cancer Pharmacology Core provides comprehensive genotyping and mutation assay services, including assay development, performance and data analysis. Genotyping is typically performed in peripheral blood mononuclear cells by pyrosequencing, while mutation analysis is performed in tumor samples after laser capture microdissection (LCM) or manual microdissection. CLIA-level genotyping and mutation analysis is available.


We also offer: The Ion-Torrent PGM™ system

  • AmpliSeq: able to identify mutations in approximately 30 cancer genes with a starting template of 10ng of DNA
  • RNA-Seq analysis
  • Targeted gene sequencing

Genotyping Assays

  • Drug Transporter Genotyping
    ABCB1, ABCG2
  • Drug Metabolism Genotyping
    CYP1A1,CYP1A2, CYP2B6, CYP2C9, CYP3A4/5, CYP17A, CYP2C8, CYP2C19, CYP2D6
    UGT1A1, UGT1A4, UGT, 1A9
  • Drug Target Genotyping
    EGFR TA repeat

Cancer Mutation Analysis

  • AmpliSeq panel
  • c-MET
  • EGFR
  • IgVh receptor
  • Kras
Please email Jill Kolesar to request any of these analytical services.