Genetic Test Details | Ontario Health

Maple Syrup Urine Disease

Test Information

Title: Maple Syrup Urine Disease
Lab: Newborn Screening Ontario
Category: Metabolic
Sub Category: Amino Acid Disorders
Gene/Platform/Region List: BCKDHA, BCKDHB, DBT, DLD
Test type: Gene Panel
Samples Accepted: Blood, DNA
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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