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
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- 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: 18 juin 2025