REDCap form changes - mosaic

[roseanna-hamilton]

I added a separate field to capture mosaic zygosity (since this isn't in the loinc code list)

[stefpiatek]

Hey @EthelEz, this is a fun one to model in FHIR, have you done this so far? I've put in a request to LOINC to add mosaic to the valueset but I think its a slow process. If you haven't modeled it yet, we could assume that the suggested change gets added and use that code and description? Otherwise open to other suggestions

[EthelEz]

Hello @stefpiatek, it's really fun. I have not modeled it yet. that's fine to use the code and description. Pls, could you share?

[stefpiatek]

Sure thing, this is the request that I added LA6708-1, Mosaic.

FYI this is the submission mosaic_loinc_submission.xlsx

[EthelEz]

Oh awesome. Thank you!

[EthelEz]

This variant type -- SNV and CNV that's included in the report, I tried finding the loinc codes but can only see the CNV as in https://loinc.org/82155-3/ but can't find anything related to SNV, SNP or Single nucleotide variant (SNV).
Pls, do you have a clue how I can get around this. I don't think it should just be a dropdown of CNV and SNV.

[EthelEz]

@stefpiatek Sorry for the delay in sending the updated sample report bundle. based on updates in RedCap.

I don't know if the CNV / SNV issue could be resolved as seen in the report since it's just a text file.

Regards

sample_bundle_v3.json.zip

[stefpiatek]

For now not implementing mosaic, LOINC should be creating a new answer list which includes mosaic, when that happens I'll post on here