Biotinidase

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  • #447716
    Marc Larrivee
    Participant

    Hello,

    My question relates to 46761-3 “<span id=”lcn” aria-label=”Long Common Name”>Biotinidase deficiency newborn screen interpretation”.</span>

    This test has a component of “Biotinidase deficiency”, but a preferred answer list with values like “In range”, “Borderline”, “Indeterminate”.

    What does a “Biotinidase deficiency” of “In range” even mean?  The deficiency is “in range” so the Biotinidase level is below normal?  Or the Biotinidase level is “in range”, so there is no Biotinidase deficiency?  Should the component here just be “Biotinidase”?

    Also, what happens if a different answer list with values like “Deficient”, “Not deficient” is used?  Then a component of “Biotinidase deficiency” makes sense.

    So there is ambiguity in how this LOINC could be interpreted, and its sense could be completely inverted depending on the answer list being used.

     

    Thanks,

    Marc

     

    #447717
    Pam Banning
    Moderator

    Hello Marc,

    The attributes of 46761-3 are Impression / Blood.Dot / Nom  and the full name indicates it is the interpretation of the biotinidase measurement.  There would be a separate LOINC for the actual measurement of biotinidase on the blood.dot ….  38478-4 Biotinidase [Presence] DBS is the qualitative option  or 75217-0 Biotinidase [Enzymatic activity/volume] in DBS is the quantitative option for nmol/mL/min.

    I find it helpful to focus only on the local terms you have in hand to map….you’re searching for a Biotinidase and know specimen and example answers. That way, you know you’re looking for a qualitative or quantitative option, not an interpretation. Reading the details of 46761-3 should only emphasis “Nope, this isn’t what I want”.  With 93,000+ terms in the version, there’s a lot in the database that you won’t be curating into the subset you need.

    I only search for IMP/NOM or IMP/NAR terms when I have an interpretation field to map.

    Sincerely hope this helps,

    Pam

    #447719
    Marc Larrivee
    Participant

    Thanks Pam.

    Am I putting too much stock in the Component property and the Preferred Answer List?  For a Component of Biotinidase Deficiency, an Answer List something like “Not deficient”, “Deficient”, “Deficient requiring further follow-up testing”, “Deficient requiring immediate intervention” would make more sense to me.

    Regards,

    Marc

     

    #447721
    Pam Banning
    Moderator

    Hi Marc,

    Feedback on content is always welcome at https://loinc.org/submissions/revisions/

    Pam

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