Diagnosis of biotinidase deficiency.
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.
5 - 10 days; contact MLabs Client Services Center or Pediatric Geneticist on Call if assay is needed on an urgent basis.
- Generic Peds Genetics Test
- BIOTINIDASE PLASMA
- BIOCH GEN REPORT
- BIOCHEMICAL GENETICS REPORT
- Biotinidase Plasma Shadow
STAT analysis must be approved by Pediatric Geneticist on Call.
Collect specimen in a green top tube. Centrifuge, aliquot plasma into a plastic vial, and freeze within 4 hours of collection.
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.