Genetic Test Details | Ontario Health

Maple Syrup Urine Disease (BCKDHA)

Test Information

Title: Maple Syrup Urine Disease (BCKDHA)
Lab: London Health Sciences Centre
Category: 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: Diagnosis, Carrier Cascade Testing
Test Methodology: Sequencing
Disease/Condition: Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD

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