Molecular test mapping for alpha/beta globin genotype

Dear all,

Anyone experiened LOINC mapping with alpha/beta/zeta globin genotyping?

I am wondering what is the analyte.

For example, the local test description is " Alpha globin genotype 1:" and “Beta globin genotype 1:” with free text results.

The descripiton is for the detection of genotype; however, no related LOINC code for HBA1 genotype.

Can I use HBA1 gene as the analyte?

Any advice?



Hi Barry,

We have a few codes for HBA1 and HBA2 gene mutation analysis that may work. They can be viewed here:*. If the lab is testing for a specific mutation or deletion, we recommend mapping to the corresponding LOINC code (e.g, LOINC 55247-1).

Currently we do not have codes for HBZ gene testing. We welcome a formal submission sent to For more information, see

The current model for how LOINC names molecular genetic tests is described in the User’s guide, Section 3.9:

Hope this helps!

Jami Deckard, MS

LOINC Content Developer

Hi Jami,

Thank you for your suggestions. Basically the results might show mutation (e.g. -3.7, -4.2) or genotype (e.g. aa) if no mutation is found. Would that be appropriate if we use [21687-9 ] HBA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal?

Beside, we found that [21688-7] is same as [21687-9] except the analyte is “HBA1 gene mutation tested for”. Should we

consider [21688-7] for this case? what does “tested for” means?


Barry FONG