Biotinidase
Label Mnemonic: BIOTS
Epic Lab Code: LAB2717
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Serum
Collection Medium:
Red top tube 5 mL (Clot Activator)
Minimum:
1 mL serum in red top tube
Turn Around Time:
4 days upon receipt at reference laboratory
Reference Range:
3.5 U/L to 13.8 U/L.

Partial deficiencies and carriers may occur at the low end of the reference range.

Values <3.5 U/L are occasionally seen in specimens from unaffected patients.
Comments:
Useful For:
Preferred test for diagnosing biotinidase deficiency

Follow-up testing for certain organic acidurias

Please print, complete, and submit the following Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request or Epic Req.

Cautions:
A diet high in biotin may result in normal clinical presentation even when the biotinidase level is low.
Methodology:
Colorimetric
CPT Code:
82261