Enzyme Biotinidase Deficiency

CPT: 82261
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Test Details


  • Biotinidase Deficiency
  • Multiple Carboxylase Deficiency, Late Onset


Diagnose biotinidase deficiency. This test is appropriate for the confirmation of newborn screening positive biotinidase deficiency results.


Treatment with sulfonamides may interfere with the assay. Neonates may have lower enzyme activity than adults. Neonates with partial deficiencies should have repeat testing to confirm results at three to six months of age. This test does not measure biotin levels. This test measures the activity of the enzyme biotinidase.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).


Determination of enzyme activity with biotin-4-aminobenzoic acid

Specimen Requirements


Serum, frozen


3 mL

Minimum Volume

1 mL


Red-top tube


Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Storage Instructions


Stability Requirements




1 month

Causes for Rejection

Quantity not sufficient for analysis; thawed specimen

Clinical Information

Special Instructions

Note: Do not use this test for biotin (vitamin B7) testing.


Shapira E, Blitzer MG, Miller JB, et al. Biochemical Genetics: A Laboratory Manual. New York, NY: Oxford University Press;1989.


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
402362 Enzyme Biotinidase Def, Serum 402366 Biotinidase Activity nmol/min/mL 1982-8
402362 Enzyme Biotinidase Def, Serum 402364 Interpretation N/A
402362 Enzyme Biotinidase Def, Serum 402403 Director Review N/A
402362 Enzyme Biotinidase Def, Serum 402365 Methodology N/A
402362 Enzyme Biotinidase Def, Serum 402367 Disclaimer: N/A

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