Test Details
Methodology
Determination of enzyme activity with biotin-4-aminobenzoic acid
Result Turnaround Time
4 - 10 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Use
Diagnose biotinidase deficiency. This test is appropriate for the confirmation of newborn screening positive biotinidase deficiency results.
Special Instructions
Note: Do not use this test for biotin (vitamin B7) testing.
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.
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).
Specimen Requirements
Specimen
Serum, frozen
Volume
3 mL
Minimum Volume
1 mL
Container
Red-top tube
Collection Instructions
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.
Stability Requirements
Temperature | Period |
|---|---|
Frozen | 1 month |
Storage Instructions
Freeze.
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
References
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 402362 | Enzyme Biotinidase Def, Serum | 1982-8 | 402366 | Biotinidase Activity | nmol/min/mL | 1982-8 |
| 402362 | Enzyme Biotinidase Def, Serum | 1982-8 | 402364 | Interpretation | N/A | |
| 402362 | Enzyme Biotinidase Def, Serum | 1982-8 | 402403 | Director Review | N/A | |
| 402362 | Enzyme Biotinidase Def, Serum | 1982-8 | 402365 | Methodology | N/A | |
| 402362 | Enzyme Biotinidase Def, Serum | 1982-8 | 402367 | Disclaimer: | N/A | |
| Order Code | 402362 | |||||
| Order Code Name | Enzyme Biotinidase Def, Serum | |||||
| Order Loinc | 1982-8 | |||||
| Result Code | 402366 | |||||
| Result Code Name | Biotinidase Activity | |||||
| UofM | nmol/min/mL | |||||
| Result LOINC | 1982-8 | |||||
| Order Code | 402362 | |||||
| Order Code Name | Enzyme Biotinidase Def, Serum | |||||
| Order Loinc | 1982-8 | |||||
| Result Code | 402364 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402362 | |||||
| Order Code Name | Enzyme Biotinidase Def, Serum | |||||
| Order Loinc | 1982-8 | |||||
| Result Code | 402403 | |||||
| Result Code Name | Director Review | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402362 | |||||
| Order Code Name | Enzyme Biotinidase Def, Serum | |||||
| Order Loinc | 1982-8 | |||||
| Result Code | 402365 | |||||
| Result Code Name | Methodology | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402362 | |||||
| Order Code Name | Enzyme Biotinidase Def, Serum | |||||
| Order Loinc | 1982-8 | |||||
| Result Code | 402367 | |||||
| Result Code Name | Disclaimer: | |||||
| UofM | ||||||
| Result LOINC | N/A |