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

Alternate Specimen

2.0 mL Serum from a Red Top Tube in a Plastic Vial 
Or
2.0 mL Plasma from a Green Top Tube - Na Heparin in a Plastic Vial  - Centrifuge and separate within an hour of collection
Or
2.0 mL Plasma from a Green Top Tube - Li Heparin in a Plastic Vial  - Centrifuge and separate within an hour of collection
Or
2.0 mL Plasma from a Lavender Top Tube - EDTA in a Plastic Vial - Centrifuge and separate within an hour of collection

TransportAndStorage

30 days Frozen

Collection Instructions

Centrifuge and separate within an hour of collection

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