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C-MD Resource for Nomenclature

A uniform nomenclature is an important prerequisite for standardization in molecular diagnostics. The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis and the establishment of new test procedures of a human exon, gene or genome. 

During a survey of IFCC Network Laboratories conducted by the IFCC C-MD, laboratories described difficulties with finding resources to identify standard nomenclature to be used in laboratory reports and requested guidance and resources1.  To begin discussions in this area, this page has been added to the IFCC C-MD website.

  1. Payne, D., Baluchova, K., Russomando, G., et al. (2018). Toward harmonization of clinical molecular diagnostic reports: findings of an international survey. Clinical Chemistry and Laboratory Medicine (CCLM), 0(0), ahead of print  doi:10.1515/cclm-2017-1080


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