BIOTS - Overview: Biotinidase, Serum

Test Catalog

Test Name

Test ID: BIOTS    
Biotinidase, Serum

Useful For Suggests clinical disorders or settings where the test may be helpful

Preferred test for diagnosing biotinidase deficiency


Follow-up testing for certain organic acidurias

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Preferred test to rule-out biotinidase deficiency.


Second-tier molecular testing is available.


See BTDZ / Biotinidase Deficiency, BTD Full Gene Analysis for specimen requirements.


Biotinidase deficiency is an autosomal recessive disorder in which the body is unable to recycle and reuse biotin leading to its depletion in the cells.


Biotinidase deficiency is treatable with oral biotin supplements.


Individuals who are diagnosed presymptomatically (eg, by newborn screening) and who are treated with biotin supplementation do not develop the associated clinical features of biotinidase deficiency.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test


NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Biotinidase, S

Aliases Lists additional common names for a test, as an aid in searching

Biotin-amide amidohydrolase
Biotinidase deficiency