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Biotinidase
Test Code70132X
CPT Codes
82261
Preferred Specimen
2 mL serum
Minimum Volume
1 mL
Other Acceptable Specimens
Plasma collected in: EDTA (lavender-top) tube, lithium heparin (green-top) tube or sodium 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 • Received room temperature • Received refrigerated
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
P.M. Sets up 2 days a week.
Clinical Significance
Detect biotinidase deficiency. Children born with biotinidase deficiency develop mental retardation; it is a very treatable disorder once diagnosed.