Galactose-1-Phosphate Uridyl Transferase Deficiency

Test Information

Title
Galactose-1-Phosphate Uridyl Transferase Deficiency
Lab
Category
Metabolic
Test Name (CMS Title)
Galactose-1-Phosphate Uridyl Transferase Deficiency
Gene/Platform/Region List
GALT
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Direct Exon Sequencing
Disease/Condition
Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)

Last Updated: November 14, 2025

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