Maple Syrup Urine Disease

Test Information

Title
Maple Syrup Urine Disease
Lab
Category
Metabolic
Test Name (CMS Title)
Amino Acid Disorders
Gene/Platform/Region List
BCKDHA, BCKDHB, DBT, DLD
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD

Last Updated: November 14, 2025

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