Galactosemia: Other

Test Information

Title
Galactosemia: Other
Lab
Category
Metabolic
Test Name (CMS Title)
Galactosemia
Gene/Platform/Region List
GALE, GALK1, GALM, GLUT2 (SLC2A2)
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
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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