Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)

Test Information

Title
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
Lab
Category
Metabolic
Test Name (CMS Title)
Galactosemia
Gene/Platform/Region List
GALT (N314D, Q188R)
Test type
Targeted Variant
Samples Accepted
Blood, DNA, Buccal Swab, Saliva
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Targeted Variant: N314D (Duarte variant), Q188R (classic galactosemia)
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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