Enzyme Biotinidase Deficiency
Also known as: 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.
Special Instructions
Do not use this test for biotin (vitamin B7) testing. 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, submit separate frozen specimens for each test requested.
Limitations
Treatment with sulfonamides may interfere with the assay. Neonates may have lower enzyme activity than adults, and those with partial deficiencies should have repeat testing to confirm results at three to six months of age. This test does not measure biotin levels; it measures the activity of the enzyme biotinidase.
Methodology
Automated Analyzer (Clinical Chemistry)
Biomarkers
LOINC Codes
- 1982-8
- 1982-8
Result Turnaround Time
4-10 days
Related Documents
For more information, please review the documents below
Specimen
Serum
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.
Storage Instructions
Freeze.
Causes for Rejection
Quantity not sufficient for analysis; thawed specimen
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 1 month |