Maple Syrup Urine Disease (BCKDHA)
| Test Information | |
|---|---|
| Test Name | Maple Syrup Urine Disease (BCKDHA) |
| Lab (Location) | London Health Sciences Centre |
| Category | Metabolic |
| Subcategory | Maple Syrup Urine Disease |
| Gene/Platform/Region List | BCKDHA |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Buccal Swab, Saliva |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Diseases/Conditions | Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD |