Molecular test mapping for alpha/beta globin genotype

Legacy laboratory-loinc chemistry
1

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?



Regards



Barry

2

Hi Barry,



We have a few codes for HBA1 and HBA2 gene mutation analysis that may work. They can be viewed here: http://search.loinc.org/search.zul?query=hba1+or+hba2+or+hbz*. 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 submissions@loinc.org. For more information, see http://loinc.org/submissions.



The current model for how LOINC names molecular genetic tests is described in the User’s guide, Section 3.9: http://loinc.org/downloads/files/LOINCManual.pdf



Hope this helps!



Jami Deckard, MS

LOINC Content Developer

3

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?



Regards,



Barry FONG