Genetic Test Details
Galactose-1-Phosphate Uridyl Transferase Deficiency
Test Information
- Titre
-
Galactose-1-Phosphate Uridyl Transferase Deficiency
- Catégorie
- 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
- Diagnostics, 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)
Dernière Mise à Jour: 05 septembre 2025