Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

J Mol Diagn. 2007 Feb;9(1):1-6. doi: 10.2353/jmoldx.2007.060081.


To translate basic research findings into clinical practice, it is essential that information about mutations and variations in the human genome are communicated easily and unequivocally. Unfortunately, there has been much confusion regarding the description of genetic sequence variants. This is largely because research articles that first report novel sequence variants do not often use standard nomenclature, and the final genomic sequence is compiled over many separate entries. In this article, we discuss issues crucial to clear communication, using examples of genes that are commonly assayed in clinical laboratories. Although molecular diagnostics is a dynamic field, this should not inhibit the need for and movement toward consensus nomenclature for accurate reporting among laboratories. Our aim is to alert laboratory scientists and other health care professionals to the important issues and provide a foundation for further discussions that will ultimately lead to solutions.

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Genes / genetics*
  • Introns / genetics
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / standards*
  • Mutation / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics
  • Terminology as Topic*


  • Cystic Fibrosis Transmembrane Conductance Regulator