Multiple carboxylase Deficiency: Biotinidase Deficiency

Test Information

Title
Multiple carboxylase Deficiency: Biotinidase Deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Organic Acid Disorders
Gene/Platform/Region List
BTD
Test type
Single Gene
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency

Last Updated: November 14, 2025

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