Multiple carboxylase deficiency: Other

Test Information

Title
Multiple carboxylase deficiency: Other
Category
Metabolic
Test Name (CMS Title)
Organic Acid Disorders
Gene/Platform/Region List
CA5A, HLCS
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Multiple carboxylase deficiency

Last Updated: November 14, 2025