Enzyme Biotinidase Deficiency

CPT: 82261
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Test Details

Synonyms

  • Biotinidase Deficiency
  • Multiple Carboxylase Deficiency, Late Onset

Use

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

Limitations

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.

Methodology

Determination of enzyme activity with biotin-4-aminobenzoic acid

Specimen Requirements

Specimen

Serum, frozen

Volume

3 mL

Minimum Volume

1 mL

Container

Red-top tube

Collection

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

Freeze.

Stability Requirements

Temperature

Period

Frozen

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.

References

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

LOINC® Map

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

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