Test Directory

This test is used to diagnose biotinidase deficiency. This test is appropriate for the confirmation of newborn screening positive biotinidase deficiency results.

Specimen Type: Serum

Collection Container: Red Top, Plain

Desired Specimen Volume: 3 mL

1. Collect a red top, plain tube via venipuncture.

1. Separate serum from cells within 30 minutes of collection.
2. Transfer 3 mL of serum to a LabCorp PP transpak frozen purple tube.
3. Freeze immediately.
4. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Transport to the laboratory frozen. 

• Quantity not sufficient for analysis
• Thawed specimen

See patient report.

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.

• Enzyme Biotinidase Deficiency
• Biotinidase Deficiency
• Multiple Carboxylase Deficiency, Late Onset