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 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 Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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