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Multiple Carboxylase Deficiency

Test Information

Title
Multiple Carboxylase Deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Organic Acid Disorders
Gene/Platform/Region List
CA5A, HLCS, BTD
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency

Last Updated: December 09, 2025

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