Genetic Test Details
Maple Syrup Urine Disease
Test Information
- Title
- Maple Syrup Urine Disease
- Category
- Metabolic
- Sub Category
- Amino Acid Disorders
- Gene/Platform/Region List
- BCKDHA, BCKDHB, DBT, DLD
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD
Last Updated: June 23, 2025