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Test ID BIOTS Biotinidase, Serum

Useful For

Preferred test for the diagnosis of biotinidase deficiency

 

Follow-up testing for certain organic acidurias

Genetics Test Information

Preferred test to rule out biotinidase deficiency.

Highlights

Enzymatic testing for the diagnosis of biotinidase deficiency, usually in follow-up to an abnormal newborn screen.

Method Name

Colorimetric

Reporting Name

Biotinidase, S

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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.

Report Available

2 to 5 days

NY State Approved

Yes

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.