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Test Code BIOTSSO Biotinidase, Serum

Additional Codes

Mayo Test Code: BIOTS

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 BTD / Biotinidase Deficiency, BTD Gene Sequencing with Deletion/Duplication, Varies.

 

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



Specimen Required


Patient Preparation:

Fasting: 4 Hours, recommended but not required

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL Serum

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


Specimen Minimum Volume

Serum: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
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

Cautions

A diet high in biotin may result in normal clinical presentation even when the biotinidase level is low.

 

Assay interference may occur for specimens collected when the patient is being treated with a sulfa drug.

Report Available

2 to 5 days

Specimen Retention Time

30 days

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Gross icterus OK

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.