Biotinidase deficiency

apatel59 · September 11, 2020, 5:25pm

Hello Pam,

I received a question about LOINC code 46761-3 “Biotinidase deficiency newborn screen interpretation”. This test has a Component property 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” or perhaps “Biotinidase level”? 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 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".

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. 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.

Thoughts/feedback appreciated.