|Values are valid only on day of printing.|
Preferred test for diagnosing biotinidase deficiency
Follow-up testing for certain organic acidurias
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.