Maple Syrup Urine Disease
| Test Information | |
|---|---|
| Test Name | Maple Syrup Urine Disease |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Amino Acid Disorders |
| Gene/Platform/Region List | BCKDHA, BCKDHB, DBT, DLD |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD |