Genetic Test Details
Maple Syrup Urine Disease
Test Information
- Titre
-
Maple Syrup Urine Disease
- Catégorie
- Metabolic
- Sub Category
-
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
- 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: 05 septembre 2025