Genetic Test Details
Galactosemia: Other
Test Information
- Titre
-
Galactosemia: Other
- Catégorie
- Metabolic
- Sub Category
-
Galactosemia
- Gene/Platform/Region List
-
GALE, GALK1, GALM, GLUT2 (SLC2A2)
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, 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)
Dernière Mise à Jour: 05 septembre 2025