Test Overview
Test Methodology

Colorimetric

Test Usage

Diagnosis of biotinidase deficiency.

Reference Range *

4.21-8.98 nmol/min/ml

Test Limitations

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
Days Set Up
Varies; test set up once per week.
Analytic Time

5 - 10 days; contact MLabs Client Services Center or Pediatric Geneticist on Call if assay is needed on an urgent basis.

Soft Order Code
BI
MiChart Code
Biotinidase Level
Synonyms
  • PGLABEL
  • Generic Peds Genetics Test
  • BI
  • BIOTINIDASE PLASMA
  • BIOCH GEN REPORT
  • BIOCHEMICAL GENETICS REPORT
  • Biotinidase Plasma Shadow
  • BIS
Laboratory
MMGL
Section
MMGL Biochemical Genetics
STAT Availability

STAT analysis must be approved by Pediatric Geneticist on Call.

Specimen Requirements
Collection Instructions

Collect specimen in a green top tube. Centrifuge, aliquot plasma into a plastic vial, and freeze within 4 hours of collection.

Rejection Criteria
Gross hemolysis or icterus.
Normal Volume
2 mL plasma
Minimum Volume
1 mL plasma
Storage Temperature
(F)-frozen plasma
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.

Billing
CPT Code
82261
Fee Code
23808