Use

The Invitae Biotinidase Deficiency Test analyzes the gene BTD, which is associated with biotinidase deficiency. This test is useful for the diagnosis of patients in whom biotinidase deficiency is suspected due to clinical symptoms, abnormal newborn screening results, or biochemical findings. Profound biotinidase deficiency, characterized by less than 10% of residual activity, if untreated, can lead to various symptoms like hypotonia, seizures, alopecia, and metabolic issues. Early intervention with pharmacologic doses of biotin is crucial to prevent irreversible neurologic damage. Partial deficiency, the most common subtype, typically involves 10%–30% activity and can detect asymptomatic individuals through newborn screenings. If untreated, this condition can lead to enzyme deficiency affecting biotin-dependent carboxylases.