I’ll tell what Jamalyne Deckard wrote us in an email:
our recommendation is to use the mutation analysis codes for reporting the patient’s variants (specific mutation or genotypes) identified and using the tested for codes for reporting all the mutations (or alleles) that were tested for.
My name is Mireia Rodriguez and i´m working in BiTAC, an enterprise located in Barcelona (Spain).
You can visit our website http://www.bitac.com (unfortunately it is still only in spanish,but soon it will be translated into english).
BiTAC works as a terminology server, and it can provide the service you are asking for, via web services.
We are working in this way in different RHIOS here in Spain.
In case you need more information you can contact us in this mail: email@example.com
We´ve been working with LOINC since 2004, and we have been proposing new LOINC codes since then.
You can see our reference in LOINC ADOPTERS.
We will be grateful to give you any information about our work.