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Biotinidase
Test Code70132
CPT Codes
82261
Preferred Specimen
2 mL serum collected in a serum separator tube (SST)
Minimum Volume
1 mL
Other Acceptable Specimens
Plasma collected in an EDTA (lavender-top) tube, or sodium or lithium heparin (green-top) tube
Instructions
Separate serum or plasma within one hour of collection and store at minimum -20° C or below. Use dry ice for shipment.
Transport Temperature
Frozen
Specimen Stability
Room temperature: Unacceptable
Refrigerated: Unacceptable
Frozen: 30 days
Refrigerated: Unacceptable
Frozen: 30 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Hemolysis
Methodology
Colorimetric (C) • Enzymatic
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Tuesday, Thursday Morning
Report available: 3 Days
Report available: 3 Days
Reference Range
5.1-11.9 nmol/mL/min
Clinical Significance
Detect biotinidase deficiency. Children born with biotinidase deficiency develop mental retardation; it is a very treatable disorder once diagnosed.