Genetic Test Details
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
Test Information
- Titre
-
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
- Catégorie
- Metabolic
- Sub Category
-
Galactosemia
- Gene/Platform/Region List
-
GALT (N314D, Q188R)
- Test type
- Targeted Variant
- Samples Accepted
- Blood, DNA, Cultured Cells, Buccal Swab, Saliva
- Indications
- Diagnostics, Carrier Cascade Testing, Prenatal
- 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)
Dernière Mise à Jour: 05 septembre 2025