Test Catalog

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.

Highlights

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

 

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 Library of PDFs including pertinent information and forms related to the test

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

Colorimetric

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Biotinidase, S

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

Biotin-amide amidohydrolase
Biotinidase deficiency
BTD