As we look at the LOINC content for genetic testing, the class distinction is not clear. Can you please point me to any editorial guidelines to distinguish why you use MOLPATH vs MOLPATH.MUT?
thankyou
Hello Beverly! Thank you for the question. Our Users Guide is located within Knowledge Base – LOINC . Table 32b within Appendix B classes contains all of the classes. Prior to the collaboration Regenstrief has with SNOMED International in creating a LOINC extension within SNOMED CT ontology, the classes were used as a way to rollup or group similar terms. Perhaps if you see all of the Molpath subclasses together, it will be easier to discern, the types of assays that are deleted material vs mutated material. If you can provide your use case or framework of studies I might be able to help further. By the way, this is NOT a field that I use as a consideration in mapping LOINC to laboratory studies.
| MOLPATH | Molecular pathology | LP7822-2 |
|---|---|---|
| MOLPATH.DEL | Deletions | LP7823-0 |
| MOLPATH.DELDUP | Deletions or Duplications | LP190353-5 |
| MOLPATH.INV | Inversions | LP146061-9 |
| MOLPATH.MISC | Miscellaneous molecular pathology | LP121011-3 |
| MOLPATH.MUT | Mutations | LP7824-8 |
| MOLPATH.NUCREPEAT | Nucleotide repeats | LP193279-9 |
| MOLPATH.PHARMG | Pharmacogenomics | LP202929-8 |
| MOLPATH.REARRANGE | Rearrangements | LP7825-5 |
| MOLPATH.TRISOMY | Trisomies | LP7827-1 |
| MOLPATH.TRNLOC | Translocations | LP7828-9 |
Kindest regards,
Pam Banning (former pCLOCD developer under your project)
Lab LOINC committee chair
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