use of 'sequencing' method for molecular genetic test


During standardization for molecular tests, seems the method ‘sequencing’ is quite important to be specified because of difference in clinical need/value (i.e. specificity, sensitivity).

However, quite a lot of disease gene detection do not have LOINC code with sequencing method. Will LOINC consider to batch create more sequencing method LOINC code?

Hi Barry,

It’s been my experience if you propose the specific genes where sequencing is being offered, Regenstrief does consider them. In June 2018 LOINC User’s Manual, section calls out that sequencing as a particular method that will be called out. I know there are people within LabCorp, Quest Diagnostics, Mayo Medical Labs, and ARUP responsible for submissions from their test compendiums. We just never know where in their queues the sequencing assays reside. If you need any assistance in getting started on a submission, I’m happy to help direct.

Best regards,