Biotinidase

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 70132
Clinical Significance

Biotinidase - Detect biotinidase deficiency. Children born with biotinidase deficiency develop mental retardation; it is a very treatable disorder once diagnosed.

 


Specimen Collection & Preparation

Specimen Requirements

2.0 mL Serum from a SST Gold Top Tube


Transport And Storage

30 days Frozen


Collection Instructions

Centrifuge and separate within an hour of collection


Minimum Volume

1.0 mL Serum


Neonatal Volume

Clinical Interpretation

Reference Range:

5.1-11.9 nmol/mL/min


Methodology:
  • Colorimetric
  • Enzymatic
Clinical Significance

Biotinidase - Detect biotinidase deficiency. Children born with biotinidase deficiency develop mental retardation; it is a very treatable disorder once diagnosed.

 


Production Schedule

Sites Performed
  • Quest - Chantilly to San Juan Capistrano
Days Performed
Tuesday
Thursday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

4 to 9 days


Coding & Compliance

CDM

00913333


CPT Coding

82261