Maple Syrup Urine Disease (BCKDHA)
Test Information
- Titre
-
Maple Syrup Urine Disease (BCKDHA)
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Maple Syrup Urine Disease
- Gene/Platform/Region List
-
BCKDHA
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Buccal Swab, Saliva
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD
Dernière Mise à Jour: 09 décembre 2025