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
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , 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: 18 juin 2025