Test Overview
Colorimetric
Diagnosis of biotinidase deficiency.
4.21-8.98 nmol/min/ml
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
A diet high in biotin may cause a patient to present a normal clinical presentation even though the biotinidase level is low. A low biotinidase should always be confirmed with a second sample. Sulfa drugs may interfere with this assay.
Test Details
5 - 10 days; contact MLabs Client Services Center or Pediatric Geneticist on Call if assay is needed on an urgent basis.
STAT analysis must be approved by Pediatric Geneticist on Call.
Specimen Requirements
Collect specimen in a green top tube. Centrifuge, aliquot plasma into a plastic vial, and freeze within 4 hours of collection.
Additional Information
Test may include medical geneticist interpretation of results at an additional charge. By ordering this test, the clinician acknowledges that a physician interpretation will be performed and billed as a separate additional charge if indicated.