Initial biotinidase enzyme test to diagnose or rule out biotinidase deficiency.
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).
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]".
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered. Ship patient and control specimens together.
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
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0093363||Biotinidase, Paired Normal Control||54457-7|
- Biotin-amide amidohydrolase
- Biotinidase deficiency