Biotinidase deficiency

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    Anil Patel
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    <span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>Hello Pam,</span>

    <span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>I received a question about </span><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>LOINC code 46761-3 “Biotinidase deficiency newborn screen interpretation”.</span><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>This test has a Component property of “Biotinidase deficiency”, but a Preferred Answer List with values like “In range”, “Borderline”, “Indeterminate”.</span><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>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” or perhaps “Biotinidase level”?</span><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>Also, what happens if a different answer list with values like “Not deficient”, “Deficient”, “Deficient requiring further follow-up testing”, “Deficient requiring immediate intervention” is used? Then a Component of “Biotinidase deficiency” seems to make sense. I have also seen </span><span style=”color: #6e6e6e; font-family: Helvetica, Arial;”><span style=”font-size: 14px;”>it reported as “Normal – the baby does not have biotinidase deficiency”,  “Abnormal – the baby does have biotinidase deficiency and will need treatment” and ” Inconclusive – more testing is required”.</span></span>

    <span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>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.</span><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>Is he putting too much stock in the Component property and Preferred Answer List? I realize that this is a Preferred Answer list and not a Normative Answer List, so it has not been validated from an instrument or authoritative source.</span>

    <span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”> </span><br style=”font-family: Helvetica, Arial; color: #6e6e6e; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);” /><span style=”color: #6e6e6e; font-family: Helvetica, Arial; font-size: 14px; background-color: rgba(255, 255, 255, 0.5);”>Thoughts/feedback appreciated.</span>

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