Targeted gene mutation analysis codes


We would like to get input from the LOINC community regarding our current naming model for targeted gene mutation analysis codes. We are considering adding “targeted” to the Component to clarify that these codes represent targeted gene mutation analysis (versus full mutation analysis, deletion/duplication, familial/known mutation analysis, etc.).

The LOINC naming model for targeted mutation analysis has had the following form:

<HGNC gene name> gene mutation analysis

For example:
CFTR gene mutation analysis

If we add “targeted”, we think it would clarify the meaning of these terms and they would align more with the full and known mutation analysis terms. For example:
CFTR gene targeted mutation analysis
CFTR gene full mutation analysis
CFTR gene mutation analysis limited to known familial mutations

We welcome your feedback as well as comments or discussion on how these codes are currently being used.

Jami Deckard, MS
LOINC Content Developer