
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 |