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- 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.
Determination of enzyme activity with biotin-4-aminobenzoic acid
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.
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
Note: Do not use this test for biotin (vitamin B7) testing.
|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|