Genetic Test Details

Maple Syrup Urine Disease (BCKDHA)

Test Information

Title
Maple Syrup Urine Disease (BCKDHA)
Lab
Category
Metabolic
Sub Category
Maple Syrup Urine Disease
Gene/Platform/Region List
BCKDHA
Test type
Single Gene
Samples Accepted
Blood, DNA, Cultured Cells
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
Sequencing
Disease/Condition
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD

Last Updated: November 26, 2025

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