Galactose-1-Phosphate Uridyl Transferase Deficiency

Test Information

Title: Galactose-1-Phosphate Uridyl Transferase Deficiency
Lab: Hamilton Health Sciences Centre
Category: Metabolic
Sub Category: Galactose-1-Phosphate Uridyl Transferase Deficiency
Gene/Platform/Region List: GALT
Test type: Single Gene
Samples Accepted: Blood , DNA , Cultured Cells , Amniocyte , CVS
Indications: Diagnosis , Carrier Cascade Testing , Prenatal
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: June 23, 2025

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