GTD Indications
Diagnosis
Carrier / Cascade Testing
GTD Samples Accepted
Blood
DNA
Dried Blood Spot (accepted ONLY for exceptional circumstances)
GTD Test Methodology
Sequencing
Generic Test name (cms title)
Amino Acid Disorders
GTD Test type
Gene Panel
GTD Location
Newborn Screening Ontario
GTD Gene/Platform/Region List
BCKDHA, BCKDHB, DBT, DLD
GTD Category
Metabolic
GTD Disease/Condition
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD