Initial biotinidase enzyme test to diagnose or rule out biotinidase deficiency.
- Patient Preparation
- A control specimen needs to be sent with the patient specimen. The control specimen needs to be drawn from a normal, healthy individual who is not biologically related to the patient. Collect control specimen within 30 minutes of patient specimen.
- Plain red or serum separator tube (patient) AND plain red serum separator tube (control).
- Specimen Preparation
- Separate serum from cells and freeze ASAP or within 2 hours of collection. Transfer 2 mL serum (patient) AND 2 mL serum (control) to individual ARUP Standard Transport Tubes. (Min: 0.2 mL (patient) AND 0.2 mL (control)). Label control tube as "Control for [patient name]".
- Storage/Transport Temperature
- CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered. Ship patient and control specimens together.
- Unacceptable Conditions
- Refrigerated or room temperature specimens. Specimens subjected to more than one freeze/thaw cycle.
- After separation from cells: Ambient: 1 hour; Refrigerated: 1 hour; Frozen: 1 month
|Component Test Code*||Component Chart Name||LOINC|
|0093363||Biotinidase, Paired Normal Control||54457-7|
- Biotin-amide amidohydrolase
- Biotinidase deficiency