Types of Molecular Profiling

A Multi-technology Approach to Molecular Profiling

Your doctor may choose from among several molecular profiling services that follow similar processes. However, not every molecular profiling service is created equal. Some involve the use of multiple technologies to provide very specific information about the molecular and genetic makeup of your tumor. For example, immunohistochemistry (IHC) is a technology used to determine the level of protein expression in a tumor. Another technology, Next-Generation Sequencing (NGS), is used to examine and detect mutations (changes) in DNA and RNA sequences. Some molecular profiling tests may use one, two, or a combination of technologies to uncover information about your cancer.

  • Immunohistochemistry (IHC): determines level of protein expression
  • Chromogenic/ Fluorescence in situ Hybridization (CISH/FISH): detects gene deletions, amplifications, translocations and fusions
  • Next-Generation Sequencing (NGS): rapidly examines and more broadly detects DNA mutations, copy number variations and gene fusions across the genome
  • Sanger Sequencing: examines strands of DNA to identify mutations by analyzing long contiguous sequencing reads
  • Pyro Sequencing (PyroSeq): detects and quantifies mutations, methylation, etc. through sequencing by synthesis
  • Quantitative Polymerase Chain Reaction (qPCR): amplifies and quantifies a targeted DNA molecule
  • Fragment Analysis (FA/Frag. Analysis): detects changes in DNA or RNA to indicate the presence or absence of genetic marker