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Test Code BIOTS Biotinidase, Serum

Reporting Name

Biotinidase, S

Useful For

Preferred test for the diagnosis of biotinidase deficiency

 

Follow-up testing for certain organic acidurias

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Ordering Guidance


Molecular testing is available, see BTDZ / Biotinidase Deficiency, BTD Full Gene Analysis, Varies.

 

If measurement of biotin concentration is requested, order BIOTN / Biotin, Serum.



Specimen Required


Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL

Collection Instructions: Centrifuge immediately and aliquot serum into plastic vial.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 21 days
  Refrigerated  5 days

Reference Values

3.5-13.8 U/L

Day(s) Performed

Monday, Thursday

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82261

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BIOTS Biotinidase, S 1982-8

 

Result ID Test Result Name Result LOINC Value
50672 Biotinidase, S 1982-8
50673 Interpretation 59462-2
50675 Reviewed By 18771-6

Interpretation

An interpretive report is provided.

 

Values below 3.5 U/L are occasionally seen in specimens from unaffected patients.

Clinical Reference

1. ACMG Newborn Screening ACT Sheets. Accessed January 19, 2024. Available at www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508

2. Zempleni J, Barshop BA, Cordonier EL, et al. Disorders of biotin metabolism. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Diseases. McGraw-Hill; Accessed January 19, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225548571

3. Wolf B. Biotinidase Deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2023. Updated May 25, 2023. Accessed January 19, 2024. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1322/

Report Available

2 to 5 days

Method Name

Colorimetric

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.